Skin Diseases Category (1920 diseases)


Including: Skin, Integument, Epidermis, Derma, Melanoma
See other categories (disease lists)

# Family MCID Name MIFTS
1 PLM102 Palmoplantar Keratoderma, Epidermolytic 41
2 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 38
3 CNG008 Congenital Ichthyosiform Erythroderma 55
4 P EPD002 Epidermolytic Hyperkeratosis 53
5 P SYS005 Systemic Scleroderma 61
6 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 39
7 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 44
8 P XRD010 Xeroderma Pigmentosum, Variant Type 55
9 EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 45
10 c KRT055 Keratoderma, Palmoplantar, Punctate Type Ia 27
11 DYS002 Dysplastic Nevus Syndrome 33
12 P DMN011 Dominant Dystrophic Epidermolysis Bullosa 31
13 SKN019 Skin Melanoma 61
14 ADR038 Adermatoglyphia 37
15 c RCS002 Recessive Dystrophic Epidermolysis Bullosa 53
16 DRM014 Dermatofibrosarcoma Protuberans 57
17 P EPD009 Epidermolysis Bullosa Dystrophica 56
18 c PLN018 Peeling Skin Syndrome 2 43
19 RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 22
20 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 40
21 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 26
22 P DRM010 Dermatomyositis 59
23 FCL009 Focal Dermal Hypoplasia 56
24 ACR014 Acral Lentiginous Melanoma 42
25 c EPD044 Epidermolysis Bullosa Dystrophica, Ar 38
26 c XRD014 Xeroderma Pigmentosum, Group G 50
27 P JNC001 Junctional Epidermolysis Bullosa 48
28 KND001 Kindler Syndrome 52
29 c LCL006 Localized Scleroderma 60
30 c EHL057 Ehlers-Danlos Syndrome, Type Iv 59
31 c EHL032 Ehlers-Danlos Syndrome, Type Viib 50
32 c EHL054 Ehlers-Danlos Syndrome, Type Vi 47
33 c EHL018 Ehlers-Danlos Syndrome Type Ii 42
34 c TYP003 Type I Ehlers-Danlos Syndrome 39
35 c EHL027 Ehlers-Danlos Syndrome, Type Viic 34
36 c EHL041 Ehlers-Danlos Syndrome, Type Vii 28
37 c EHL065 Ehlers-Danlos Syndrome, Type V 20
38 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 8
39 PKL001 Poikiloderma with Neutropenia 42
40 INF057 Inflammatory Linear Verrucous Epidermal Nevus 23
41 KRT022 Keratoderma Palmoplantar Spastic Paralysis 8
42 EPD028 Epidermolysis Bullosa Simplex, Dowling-Meara Type 48
43 MLG108 Malignant Melanoma, Somatic 57
44 STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 46
45 PLM136 Palmoplantar Keratoderma, Nonepidermolytic 34
46 P KRT056 Keratosis Palmoplantaris Striata I, Ad 22
47 DGS008 Digestive System Melanoma 18
48 ACR003 Acrodermatitis Enteropathica 50
49 OCL022 Ocular Melanoma 50
50 P ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 43
51 P ATP001 Atopic Dermatitis 60
52 c XRD015 Xeroderma Pigmentosum, Group F 51
53 EPD053 Epidermal Nevus, Somatic 48
54 PLM135 Palmoplantar Keratoderma, Bothnian Type 31
55 ATR054 Atrophoderma Vermiculata 15
56 EPD045 Epidermolysis Bullosa, Junctional, with Pyloric Stenosis 47
57 P RST011 Restrictive Dermopathy, Lethal 44
58 UNN001 Unna-Thost Palmoplantar Keratoderma 9
59 NGL003 Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis 8
60 ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 63
61 P DRM007 Dermatitis Herpetiformis 52
62 EPD034 Epidermolysis Bullosa, Pretibial 24
63 PGM028 Pigmented Purpuric Dermatosis 19
64 PLM113 Palmoplantar Keratoderma-Sclerodactyly Syndrome 13
65 c PLN017 Peeling Skin Syndrome 1 38
66 NXS001 Naxos Disease 48
67 EPD041 Epidermolysis Bullosa Simplex, Weber-Cockayne Type 42
68 CTN004 Cutaneous Fibrous Histiocytoma 41
69 LPD014 Lipodermatosclerosis 37
70 ERY046 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige 32
71 PYG002 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 22
72 ERY049 Erythroderma, Lethal Congenital 18
73 c XRD018 Xeroderma Pigmentosum, Group a 59
74 HYP542 Hypersensitivity Syndrome, Carbamazepine-Induced 46
75 CRN070 Corneodermatoosseous Syndrome 19
76 c PNC115 Punctate Palmoplantar Keratoderma Type 2 10
77 KRT023 Keratoderma Palmoplantaris Transgrediens 7
78 c XRD019 Xeroderma Pigmentosum, Group C 53
79 P ICH004 Ichthyosis 53
80 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 48
81 VHW001 Vohwinkel Syndrome 43
82 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 42
83 EPD047 Epidermolysis Bullosa Simplex, Koebner Type 41
84 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 39
85 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 30
86 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 28
87 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 28
88 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 28
89 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 24
90 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 23
91 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 22
92 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 22
93 c ICH023 Ichthyosis, Acquired 20
94 PRM139 Primary Melanoma of the Central Nervous System 16
95 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 15
96 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 14
97 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 13
98 c ST1001 St14-Related Autosomal Recessive Congenital Ichthyosis 11
99 c LPN003 Lipn-Related Autosomal Recessive Congenital Ichthyosis 9
100 c ABC002 Abca12-Related Autosomal Recessive Congenital Ichthyosis 8
101 c ALX004 Alox12b-Related Autosomal Recessive Congenital Ichthyosis 7
102 c ALX005 Aloxe3-Related Autosomal Recessive Congenital Ichthyosis 7
103 c CYP003 Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis 7
104 c PNP002 Pnpla1-Related Autosomal Recessive Congenital Ichthyosis 7
105 c TGM001 Tgm1-Related Autosomal Recessive Congenital Ichthyosis 7
106 ERY019 Erythroderma Desquamativa of Leiner 5
107 SKN016 Skin Disease 64
108 CNT047 Contact Dermatitis 59
109 P RTH001 Rothmund-Thomson Syndrome 57
110 c XRD012 Xeroderma Pigmentosum, Group D 55
111 CHL028 Childhood Type Dermatomyositis 43
112 c PLN021 Peeling Skin Syndrome 3 32
113 P EPD025 Epidermolysis Bullosa with Pyloric Atresia 28
114 c EPD043 Epidermolysis Bullosa Dystrophica, Ad 21
115 NTR042 Neutrophilic Dermatosis, Acute Febrile 19
116 c XRD013 Xeroderma Pigmentosum, Group B 53
117 P PLN008 Peeling Skin Syndrome 49
118 c ATS068 Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia 13
119 ATR020 Atrophoderma of Pierini and Pasini 8
120 CLV009 Clove Syndrome, Somatic 32
121 P SYM025 Symmetric Circumferential Skin Creases, Congenital, 1 23
122 P FCL023 Focal Facial Dermal Dysplasia 21
123 DRM042 Dermatoosteolysis, Kirghizian Type 18
124 PLM131 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 18
125 c XRD009 Xeroderma Pigmentosum, Type 9 7
126 MLG005 Malignant Spindle Cell Melanoma 30
127 CHL071 Child Syndrome 59
128 EPD001 Epidermodysplasia Verruciformis 52
129 LMT001 Limited Scleroderma 46
130 ECZ002 Eczema Herpeticum 42
131 c DRM035 Dermatitis, Atopic 2 37
132 P MLN043 Melanoma, Cutaneous Malignant 8 36
133 c SBR001 Seborrheic Infantile Dermatitis 33
134 LNR005 Linear Scleroderma 24
135 DGS002 Degos 'en Cocarde' Erythrokeratoderma 7
136 PLM029 Palmoplantar Keratosis 42
137 CLD014 Cole Disease 40
138 ICH031 Ichthyosis with Confetti 32
139 ICH036 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 30
140 PRN056 Parana Hard-Skin Syndrome 16
141 c PRM047 Primary Malignant Melanoma of the Cervix 15
142 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 14
143 c PLM142 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 14
144 P EPD003 Epidermolysis Bullosa Simplex 53
145 P PLM078 Palmoplantar Keratoderma, Nonepidermolytic, Focal 24
146 PLM082 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 22
147 P GNR027 Generalized Peeling Skin Syndrome 22
148 P PLM140 Palmoplantar Keratoderma with Congenital Alopecia 22
149 P UVL004 Uveal Melanoma 60
150 P SBR004 Seborrheic Dermatitis 38
151 P XRD027 Xeroderma Pigmentosum Group E 36
152 BRB006 Barber-Say Syndrome 35
153 LNT002 Lentigo Maligna Melanoma 34
154 MLN012 Melanoma and Neural System Tumor Syndrome 24
155 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 24
156 c PLM152 Palmoplantar Keratoderma, Punctate Type Iii 21
157 c ATS072 Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 18
158 SKN061 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 11
159 MLN008 Melanoma 70
160 P SKN013 Skin Benign Neoplasm 41
161 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 33
162 NRT002 Neurotic Excoriation 30
163 TXC003 Toxicodendron Dermatitis 27
164 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 21
165 c KRT018 Keratosis Palmoplantaris Striata Iii 17
166 DFF023 Diffuse Palmoplantar Keratoderma, Bothnian Type 7
167 P CTS001 Cutis Laxa 60
168 STF002 Stiff Skin Syndrome 55
169 SKN005 Skin Atrophy 39
170 c CTS008 Cutis Laxa, Autosomal Dominant 37
171 OLM001 Olmsted Syndrome 35
172 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 35
173 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 33
174 VHW002 Vohwinkel Syndrome with Ichthyosis 33
175 CRC001 Cercarial Dermatitis 32
176 XRD017 Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype 31
177 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
178 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
179 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 28
180 c ACQ027 Acquired Cutis Laxa 26
181 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
182 c CTS041 Cutis Laxa, Autosomal Dominant 3 24
183 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 24
184 EPD031 Epidermolysis Bullosa Simplex, Ogna Type 23
185 c CTS031 Cutis Laxa, Autosomal Dominant 2 22
186 GRN032 Granulomatous Slack Skin Disease 21
187 EPD069 Epidermolysis Bullosa Simplex-Mcr 21
188 SKN024 Skin Fragility-Woolly Hair Syndrome 21
189 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 20
190 c EPD068 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 20
191 c ATP003 Atp6v0a2-Related Cutis Laxa 19
192 EPD055 Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 19
193 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 18
194 c EFM001 Efemp2-Related Cutis Laxa 16
195 c ALD008 Aldh18a1-Related Cutis Laxa 15
196 c LTB003 Ltbp4-Related Cutis Laxa 12
197 c PYC002 Pycr1-Related Cutis Laxa 11
198 c FBL003 Fbln5-Related Cutis Laxa 9
199 c ELN002 Eln-Related Cutis Laxa 7
200 LSH001 Leishmaniasis 66
201 ADL002 Adult Syndrome 57
202 NTH001 Netherton Syndrome 55
203 RYN003 Reynolds Syndrome 51
204 IRR003 Irritant Dermatitis 43
205 SKN022 Skin Squamous Cell Carcinoma 40
206 RTT001 Ritter's Disease 40
207 EPD022 Epidermolysis Bullosa Pruriginosa 38
208 c MLN032 Melanoma, Cutaneous Malignant, 2 32
209 c MLN050 Melanoma, Cutaneous Malignant, 3 31
210 TNN002 Tinea Unguium 31
211 ARR038 Arrhythmogenic Right Ventricular Dysplasia 11 26
212 c MLN049 Melanoma, Cutaneous Malignant, 9 26
213 c MLN052 Melanoma, Cutaneous Malignant, 5 25
214 c MLN051 Melanoma, Cutaneous Malignant, 6 24
215 FCL036 Focal Palmoplantar and Gingival Keratoderma 14
216 NDL001 Nodular Malignant Melanoma 40
217 SKN018 Skin Hemangioma 38
218 WRN004 Wrinkly Skin Syndrome 34
219 MLG142 Malignant Conjunctival Melanoma 31
220 SKN020 Skin Papilloma 31
221 TRN023 Transient Bullous of the Newborn 26
222 DRM021 Dermatopathia Pigmentosa Reticularis 25
223 KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 23
224 ATM026 Autoimmune Progesterone Dermatitis 17
225 TRC111 Trichodysplasia-Xeroderma 16
226 EPD010 Epidermal Appendage Tumor 16
227 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 12
228 ACQ008 Acquired Hyperkeratosis 10
229 RDS002 Red Skin Pigment Anomaly of New Guinea 8
230 SKN004 Skin Amelanotic Melanoma 6
231 DRM006 Dermatitis 63
232 BLS002 Blastomycosis 40
233 AML001 Amelanotic Melanoma 37
234 PLM137 Palmoplantar Keratoderma and Woolly Hair 35
235 TNC003 Tinea Corporis 34
236 c EPD058 Epidermolysis Bullosa Simplex, Recessive 1 31
237 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 21
238 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 20
239 c KRT017 Keratosis Palmoplantaris Striata Ii 18
240 c FCL046 Focal Facial Dermal Dysplasia 4 17
241 EBD002 Ebd, Bart Type 13
242 KRT062 Keratoderma with Woolly Hair 9
243 c ATS013 Autosomal Recessive Congenital Ichthyosis 46
244 SKN027 Skin Conditions 44
245 DRM009 Dermatomycosis 35
246 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 27
247 ACR097 Acrodermatitis Chronica Atrophicans 26
248 c ATP016 Atopic Dermatitis 3 25
249 UVN001 Uv-Induced Skin Damage 22
250 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 19
251 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 19
252 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 17
253 LKN004 Leukoencephalopathy Palmoplantar Keratoderma 13
254 CRL002 Curly Hair-Acral Keratoderma-Caries Syndrome 12
255 SKN001 Skin Angiosarcoma 12
256 PYD001 Pyoderma Gangrenosum 50
257 SKN023 Skin Tag 46
258 c PST022 Posterior Uveal Melanoma 38
259 PHT003 Phototoxic Dermatitis 37
260 EPD033 Epidermolysis Bullosa, Lethal Acantholytic 36
261 ACR005 Acrodermatitis 35
262 OCC001 Occupational Dermatitis 34
263 MLG007 Malignant Skin Fibrous Histiocytoma 31
264 DRM008 Dermatographia 30
265 PHT004 Photoallergic Dermatitis 30
266 ATN013 Autoinflammation, Panniculitis, and Dermatosis Syndrome 29
267 TNC001 Tinea Cruris 28
268 ODN009 Odontoonychodermal Dysplasia 27
269 MLG070 Malignant Iris Melanoma 23
270 MLG038 Malignant Anus Melanoma 22
271 BSN001 Basan Syndrome 20
272 SCL001 Scalp Dermatosis 20
273 LTN013 Late-Onset Focal Dermal Elastosis 19
274 PLN020 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 18
275 MLG061 Malignant Choroid Melanoma 18
276 PLM104 Palmoplantar Keratoderma, Nagashima Type 17
277 MLG062 Malignant Ciliary Body Melanoma 17
278 INF127 Infective Dermatitis Associated with Htlv-1 15
279 P SKN009 Skin Granular Cell Tumor 15
280 MLG008 Malignant Breast Melanoma 15
281 CHR448 Choroid Mixed Cell Melanoma 14
282 ERY005 Erythematosquamous Dermatosis 14
283 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 14
284 CNT086 Centripetalis Recessive Dystrophic Epidermolysis Bullosa 13
285 MXD040 Mixed Cell Uveal Melanoma 13
286 DYS044 Dysmorphism Cleft Palate Loose Skin 12
287 RCT003 Rectum Malignant Melanoma 12
288 SKN008 Skin Glomus Tumor 11
289 c MLG050 Malignant Granular Cell Skin Tumor 11
290 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 9
291 MLG052 Malignant Cornea Melanoma 9
292 c FCL059 Focal Facial Dermal Dysplasia 3 9
293 SKN026 Skin Cancer, Non Melanoma, Childhood 8
294 c CL1003 Col17a1-Related Junctional Epidermolysis Bullosa 7
295 c KRT030 Krt10-Related Epidermolytic Hyperkeratosis 6
296 c KRT033 Krt1-Related Epidermolytic Hyperkeratosis 6
297 PLM046 Palmoplantar Keratoderma of Sybert 4
298 TNP001 Tinea Pedis 37
299 TNC002 Tinea Capitis 34
300 EPD040 Epidermolysis Bullosa Simplex with Pyloric Atresia 32
301 CHR463 Chronic Actinic Dermatitis 31
302 c SCL052 Scleroderma, Familial Progressive 29
303 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 25
304 MLN046 Melanoma-Associated Retinopathy 22
305 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 21
306 KSK002 Kosaki Overgrowth Syndrome 20
307 c SYM026 Symmetric Circumferential Skin Creases, Congenital, 2 19
308 OLM002 Olmsted Syndrome, X-Linked 18
309 RMB001 Rombo Syndrome 18
310 SPR033 Superficial Spreading Melanoma 18
311 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 16
312 ELS003 Elastoderma 15
313 CNG265 Congenital Erosive and Vesicular Dermatosis 13
314 PKL003 Poikiloderma, Hereditary Sclerosing 13
315 DFF018 Diffuse Dermal Angiomatosis 12
316 EPD016 Epidermolysis Bullosa 55
317 PYD002 Pyoderma 47
318 DRM011 Dermatophytosis 42
319 P DWL001 Dowling-Degos Disease 41
320 c DWL002 Dowling-Degos Disease 1 41
321 BLL007 Bullous Skin Disease 39
322 KWS001 Kwashiorkor 34
323 MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 31
324 c PLN025 Peeling Skin Syndrome 5 25
325 INT189 Interstitial Granulomatous Dermatitis with Arthritis 22
326 DLT011 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 19
327 DPD001 Deep Dermatophytosis 18
328 HYP346 Hypotrichosis and Recurrent Skin Vesicles 17
329 c ATP017 Atopic Dermatitis 4 17
330 c ATP018 Atopic Dermatitis 5 17
331 c DWL003 Dowling-Degos Disease 2 17
332 c ATP019 Atopic Dermatitis 6 16
333 c DWL004 Dowling-Degos Disease 4 16
334 c ATP020 Atopic Dermatitis 7 15
335 c DWL005 Dowling-Degos Disease 3 10
336 CHR011 Choroid Spindle Cell Melanoma 7
337 CLR002 Ciliary Body Spindle Cell Melanoma 7
338 SBC012 Subcorneal Pustular Dermatosis 42
339 DFF003 Diffuse Scleroderma 41
340 VLV020 Vulvar Melanoma 38
341 MLN013 Melanoma Metastasis 38
342 VSC012 Vesiculobullous Skin Disease 38
343 ANG016 Angiokeratoma 38
344 c ADL027 Adult Dermatomyositis 37
345 MNN008 Meningeal Melanomatosis 35
346 EHL053 Ehlers-Danlos Syndrome, Progeroid Type, 2 34
347 WND001 Wound Botulism 33
348 c PLN024 Peeling Skin Syndrome 4 32
349 CHR100 Chronic Ulcer of Skin 32
350 EXF003 Exfoliative Dermatitis 25
351 FCL001 Facial Dermatosis 24
352 SKN002 Skin Lipoma 24
353 GLL012 Gallbladder Melanoma 23
354 MLT104 Multiple Benign Circumferential Skin Creases on Limbs 22
355 ERS002 Erosive Pustular Dermatosis of the Scalp 22
356 MNN010 Meningeal Melanoma 22
357 HND001 Hand Dermatosis 22
358 EPT001 Epithelioid Cell Melanoma 22
359 PRC021 Parc Syndrome 21
360 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 21
361 TNM002 Tinea Manuum 20
362 VSC009 Vascular Skin Disease 20
363 EPD036 Epidermolysis Bullosa Simplex, Other Generalized 20
364 ORB015 Orbital Melanoma 20
365 c MLN039 Melanoma, Uveal 1 20
366 PSD105 Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis 19
367 c MLN041 Melanoma, Uveal 2 19
368 SPN025 Spinal Cord Melanoma 18
369 c DRM040 Dermatitis Herpetiformis, Familial 18
370 TNB001 Tinea Barbae 18
371 LGD001 Leg Dermatosis 18
372 HRD113 Hereditary Acrokeratotic Poikiloderma, Weary Type 17
373 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 17
374 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 17
375 SKN010 Skin Epithelioid Hemangioma 15
376 EPD064 Epidermolysis Bullosa Simplex with Nail Dystrophy 15
377 DRM019 Dermatoleukodystrophy 15
378 ADL009 Adult Leptomeningeal Melanoma 15
379 KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 14
380 RTN010 Retinal Melanoma 14
381 ESP016 Esophagus Melanoma 13
382 c FML205 Familial Anetoderma 13
383 EPD067 Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss 13
384 PLM154 Palmoplantar Keratoderma, Norrbotten Recessive Type 13
385 DRM002 Dermoid Cyst of Skin 13
386 HRD178 Hereditary Papulotranslucent Acrokeratoderma 12
387 c GNR024 Generalized Peeling Skin Syndrome Type C 12
388 SQM001 Squamous Cell Papilloma of Skin 12
389 JSS002 Jessner Lymphocytic Infiltration of the Skin 12
390 CHR014 Choroid Epithelioid Cell Melanoma 11
391 c PT1001 Pot1-Related Susceptibility to Cutaneous Malignant Melanoma 11
392 MLG096 Malignant Melanoma, Childhood 10
393 SKN007 Skin Meningioma 10
394 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 10
395 ADM002 Adamantinoid Basal Cell Epithelioma 10
396 BNG008 Benign Dermal Neurilemmoma 10
397 CLR010 Clear Cell Squamous Cell Skin Carcinoma 10
398 CND003 Candidal Paronychia 9
399 PRM048 Primary Malignant Melanoma of the Conjunctiva 9
400 SKN017 Skin Glomangioma 9
401 c MC1001 Mc1r-Related Cutaneous Malignant Melanoma 8
402 c MTF002 Mitf-Related Susceptibility to Cutaneous Malignant Melanoma 8
403 c CDK002 Cdk4-Related Cutaneous Malignant Melanoma 8
404 c CDK004 Cdkn2a-Related Cutaneous Malignant Melanoma 8
405 CHR045 Choroid Necrotic Melanoma 8
406 c TRT016 Tert-Related Cutaneous Malignant Melanoma 8
407 c XRC001 Xrcc3-Related Cutaneous Malignant Melanoma 8
408 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 7
409 ALL005 Allergic Contact Dermatitis of Eyelid 7
410 BSL002 Basaloid Squamous Cell Skin Carcinoma 7
411 ECC006 Eccrine Mixed Tumor of Skin 7
412 NNN006 Noninfectious Dermatoses of Eyelid 7
413 PRN012 Perianal Skin Paget's Disease 6
414 SCR012 Scrotum Melanoma 6
415 DRM001 Dermal Unilateral Segmental Cavernous Angioma 6
416 ACN008 Acantholytic Squamous Cell Skin Carcinoma 6
417 c LM3001 Lama3-Related Junctional Epidermolysis Bullosa 6
418 c LMB026 Lamb3-Related Junctional Epidermolysis Bullosa 6
419 c LMC001 Lamc2-Related Junctional Epidermolysis Bullosa 6
420 PGM025 Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome 5
421 c ITG002 Itgb4-Related Epidermolysis Bullosa with Pyloric Atresia 5
422 RCS011 Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe, Modifier of 5
423 c XRD005 Xeroderma Pigmentosum, Type 2 4
424 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 4
425 MNT019 Mental Retardation Hypotonia Skin Hyperpigmentation 3
426 SHR013 Short Stature Abnormal Skin Pigmentation Mental Retardation 3
427 MSM009 Mesomelic Dysplasia Skin Dimples 3
428 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 3
429 DRM018 Dermatocardioskeletal Syndrome Boronne Type 2
430 TRC043 Tricho Odonto Onycho Dermal Syndrome 2
431 PNC058 Punctate Acrokeratoderma Freckle Like Pigmentation 2
432 XRD011 Xeroderma Talipes Enamel Defects 2
433 CDK001 Cdk4 Linked Melanoma 2
434 P OCL002 Oculocutaneous Albinism 55
435 c ALB021 Albinism, Oculocutaneous, Type Ii 49
436 MLT016 Multicentric Reticulohistiocytosis 46
437 MCS004 Mucosal Melanoma 41
438 ACT167 Acute Generalized Exanthematous Pustulosis 38
439 c ALB009 Albinism, Oculocutaneous, Type Ia 37
440 CHN002 Chancroid 34
441 c ALB019 Albinism, Oculocutaneous, Type Iv 33
442 DRM003 Dermatosis Papulosa Nigra 32
443 CNT001 Contagious Pustular Dermatitis 32
444 c ALB010 Albinism, Oculocutaneous, Type Ib 32
445 c ALB020 Albinism, Oculocutaneous, Type Iii 28
446 c BRT028 Brittle Cornea Syndrome 1 27
447 c ALB015 Albinism, Oculocutaneous, Type V 27
448 c ALB017 Albinism, Oculocutaneous, Type Vi 26
449 c ALB016 Albinism, Oculocutaneous, Type Vii 25
450 EHL070 Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies 24
451 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 22
452 c MLN055 Melanoma, Cutaneous Malignant 10 21
453 VRR003 Verruciform Xanthoma of Skin 19
454 TNL002 Toenail Dystrophy, Isolated 18
455 PRK047 Porokeratotic Eccrine Ostial and Dermal Duct Nevus 15
456 SBR007 Seborrhea-Like Dermatitis with Psoriasiform Elements 14
457 SQM002 Squamous Cell Papilloma 40
458 C9D001 C9 Deficiency 31
459 ATM016 Autoimmune Disease of Skin and Connective Tissue 30
460 P INT283 Integumentary System Cancer 30
461 P ANG013 Angioma Serpiginosum 28
462 PSD059 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 23
463 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 23
464 SCL027 Sclerotylosis 22
465 EPD004 Epidermolytic Acanthoma 20
466 TNP002 Tinea Profunda 19
467 c INT282 Integumentary System Benign Neoplasm 18
468 c ATP021 Atopic Dermatitis 8 15
469 CLL040 Callosities, Hereditary Painful 14
470 FCL040 Focal Acral Hyperkeratosis 14
471 c ATP022 Atopic Dermatitis 9 13
472 ECC003 Eccrine Papillary Adenoma 12
473 IMM145 Immunodeficiency 11b with Atopic Dermatitis 11
474 c ANG028 Angioma Serpiginosum, Autosomal Dominant 9
475 IRS001 Iris Spindle Cell Melanoma 6
476 OVR104 Ovarian Melanoma 38
477 CTN012 Cutaneous Leiomyosarcoma 37
478 ACN003 Acneiform Dermatitis 36
479 GRN003 Granulomatous Dermatitis 34
480 SKN006 Skin Sarcoidosis 34
481 SBC009 Sebaceous Adenoma 34
482 MLN002 Melanomatosis 32
483 SNL003 Senile Angioma 32
484 NRD001 Neurodermatitis 32
485 STR096 Striate Palmoplantar Keratoderma 30
486 MDD015 Mid-Dermal Elastolysis 28
487 CTN001 Cutaneous Solitary Mastocytoma 26
488 P PHT010 Photoparoxysmal Response 1 26
489 c JVN011 Juvenile Dermatitis Herpetiformis 25
490 HDR001 Hidrocystoma 24
491 CTN010 Cutaneous Ganglioneuroma 23
492 GRW032 Growth Factors, Combined Defect of 23
493 LMY001 Leiomyoma Cutis 22
494 ECC002 Eccrine Acrospiroma 22
495 JNC002 Junctional Epidermolysis Bullosa Inversa 21
496 P PNC113 Punctate Palmoplantar Keratoderma 21
497 SHH004 Shaheen Syndrome 21
498 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 20
499 P PRM145 Primary Anetoderma 20
500 BLL002 Balloon Cell Malignant Melanoma 19
501 SPN011 Spongiotic Dermatitis 19
502 c RTH005 Rothmund-Thomson Syndrome Type 2 19
503 ERY047 Erythroderma Desquamativum 18
504 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 17
505 LPD028 Lipodystrophy Due to Peptidic Growth Factors Deficiency 17
506 c RTH004 Rothmund-Thomson Syndrome Type 1 17
507 MLT066 Multiple Cutaneous and Uterine Leiomyomas 17
508 NVD002 Nevada Syndrome 16
509 c LTN015 Late-Onset Junctional Epidermolysis Bullosa 15
510 EPD052 Epidermolysis Bullosa Simplex Superficialis 15
511 LNR009 Linear Atrophoderma of Moulin 14
512 EPD051 Epidermolysis Bullosa Simplex with Anodontia/hypodontia 14
513 KRT066 Keratosis, Focal Palmoplantar and Gingival 14
514 PNS017 Pens Syndrome 14
515 P CRV009 Cervix Melanoma 14
516 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 13
517 LNR017 Linear Focal Elastosis 13
518 KRT068 Keratosis Palmaris Et Plantaris with Clinodactyly 13
519 PTT039 Pituitary Dermoid and Epidermoid Cysts 12
520 CTN008 Cutaneous Liposarcoma 12
521 MLG109 Malignant Melanoma of the Mucosa 12
522 ACR075 Acral Dystrophic Epidermolysis Bullosa 11
523 CLR008 Ciliary Body Mixed Cell Melanoma 11
524 IRS002 Iris Mixed Cell Melanoma 10
525 DFF028 Diffuse Leptomeningeal Melanocytosis 10
526 CLR004 Ciliary Body Epithelioid Cell Melanoma 10
527 UVL002 Uveal Epithelioid Cell Melanoma 10
528 c PHT009 Photoparoxysmal Response 2 10
529 SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 10
530 DYS130 Dystrophic Epidermolysis Bullosa, Nails Only 9
531 c PHT011 Photoparoxysmal Response 3 9
532 NCR008 Necrotic Uveal Melanoma 9
533 ACR068 Acrodermatitis Continua Suppurativa of Hallopeau 9
534 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 9
535 DFF032 Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome 8
536 MLG010 Malignant Eyelid Melanoma 8
537 END012 Endometriosis in Scar of Skin 7
538 c LTH013 Lethal Restrictive Dermopathy, Lmna-Related 7
539 c LTH014 Lethal Restrictive Dermopathy, Zmpste24-Related 7
540 c ERC001 Ercc1-Related Xeroderma Pigmentosum 7
541 PDT007 Pediatric Leptomeningeal Melanoma 7
542 NNT046 Neonatal Dermatomyositis 7
543 NNT043 Neonatal Scleroderma 6
544 INT023 Intermediate Cell Type Ciliary Body Melanoma 6
545 c DSP002 Dsp-Related Ectodermal Dysplasia/skin Fragility Syndrome 6
546 c PKP001 Pkp1-Related Ectodermal Dysplasia/skin Fragility Syndrome 6
547 PSD011 Pseudovascular Skin Squamous Cell Carcinoma 6
548 PRT089 Partial Deep Dermal and Full Thickness Burns 6
549 ECZ001 Eczematous Dermatitis of Eyelid 5
550 XRD002 Xeroderma of Eyelid 5
551 c DDB001 Ddb2-Related Xeroderma Pigmentosum 5
552 c ERC002 Ercc2-Related Xeroderma Pigmentosum 5
553 c ERC003 Ercc3-Related Xeroderma Pigmentosum 5
554 c ERC004 Ercc4-Related Xeroderma Pigmentosum 5
555 c ERC005 Ercc5-Related Xeroderma Pigmentosum 5
556 c PLH001 Polh-Related Xeroderma Pigmentosum 5
557 c XPC001 Xpc-Related Xeroderma Pigmentosum 5
558 c XPR002 Xpa-Related Xeroderma Pigmentosum 5
559 PLN004 Plantar Verrucous Skin Carcinoma 5
560 SVR094 Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome 4
561 LCL021 Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 3
562 c ITG001 Itga6-Related Epidermolysis Bullosa with Pyloric Atresia 3
563 c PLC022 Plec-Related Epidermolysis Bullosa with Pyloric Atresia 3
564 EPD026 Epidermal Nevus Vitamin D Resistant Rickets 2
565 c HPT073 Hepatitis C Virus 70
566 P HPT021 Hepatitis 68
567 c MCP037 Mucopolysaccharidosis is 65
568 c MCP003 Mucopolysaccharidosis Vii 63
569 PSR001 Psoriatic Arthritis 63
570 c MCP024 Mucopolysaccharidosis Type Vi 61
571 P EHL001 Ehlers-Danlos Syndrome 61
572 c MCP004 Mucopolysaccharidosis Iv 60
573 ACN011 Acne 59
574 c MCP001 Mucopolysaccharidosis Iii 58
575 c VRL010 Viral Hepatitis 58
576 c ATM011 Autoimmune Hepatitis 57
577 P EXN002 Exanthem 57
578 URT039 Urticaria 56
579 CRM001 Crimean-Congo Hemorrhagic Fever 55
580 HRP004 Herpes Zoster 54
581 P LPD010 Lipodystrophy 53
582 RSC001 Rosacea 53
583 P ANG015 Angioedema 52
584 c HRM005 Hermansky-Pudlak Syndrome 1 52
585 P LCH002 Lichen Planus 52
586 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 51
587 c CWD006 Cowden Syndrome 1 51
588 ACT008 Actinic Keratosis 51
589 P HRD018 Hair Disease 50
590 c LPM012 Lipomatosis, Multiple 50
591 c HRM006 Hermansky-Pudlak Syndrome 3 49
592 PNN001 Panniculitis 49
593 CLL003 Cellulitis 48
594 HYP077 Hypertrichosis 48
595 KRT009 Keratosis 48
596 c MCP041 Mucopolysaccharidosis Type Iiia 48
597 P CNG411 Congenital Disorder of Glycosylation, Type in 48
598 c TRC092 Trichorhinophalangeal Syndrome, Type I 48
599 c MCP038 Mucopolysaccharidosis Iva 48
600 P APL006 Aplasia Cutis Congenita 48
601 c CNG415 Congenital Disorder of Glycosylation, Type Ia 48
602 c MCP040 Mucopolysaccharidosis-Plus Syndrome 48
603 P WLL002 Weill-Marchesani Syndrome 48
604 P LPM005 Lipomatosis 48
605 P NLD001 Nail Disease 47
606 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
607 NNT012 Neonatal Jaundice 47
608 c HPT015 Hepatitis D 47
609 P CTN003 Cutaneous Lupus Erythematosus 47
610 GSG001 Gas Gangrene 46
611 MLN054 Melanocytic Nevus Syndrome, Congenital, Somatic 46
612 FLL008 Folliculitis 45
613 c HRM008 Hermansky-Pudlak Syndrome 5 45
614 P KRN004 Kernicterus 45
615 RFT001 Rift Valley Fever 45
616 P CHL092 Chilblain Lupus 45
617 DSC009 Discoid Lupus Erythematosus 44
618 HYP457 Hypertrophic Scars 44
619 c JVN003 Juvenile Xanthogranuloma 44
620 CRB016 Carbuncle 44
621 P MCP012 Mucopolysaccharidosis Ih 44
622 CHC001 Chickenpox 43
623 c CNG012 Congenital Generalized Lipodystrophy 43
624 HDR003 Hidradenitis 43
625 c ANG041 Angioedema, Hereditary, Types I and Ii 43
626 HND002 Hand, Foot and Mouth Disease 42
627 c ACQ012 Acquired Angioedema 42
628 IMP004 Impetigo 42
629 ANH002 Anhidrosis 42
630 DCB001 Decubitus Ulcer 42
631 P ACQ022 Acquired Generalized Lipodystrophy 42
632 c MCP026 Mucopolysaccharidosis Type Iiib 41
633 PTY001 Pityriasis Rosea 41
634 MDN005 Mednik Syndrome 41
635 PRN049 Paraneoplastic Pemphigus 41
636 HNN001 Hennekam Syndrome 41
637 DNG001 Dengue Shock Syndrome 40
638 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
639 INH001 Inhalation Anthrax 39
640 TRM011 Terminal Osseous Dysplasia 39
641 PGM003 Pigmentation Disease 39
642 c HRM009 Hermansky-Pudlak Syndrome 6 39
643 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 38
644 BLL012 Bullous Impetigo 37
645 LCH004 Lichen Disease 37
646 RTC008 Reticulate Acropigmentation of Kitamura 37
647 HYP022 Hypohidrosis 36
648 PRP056 Porphyria, Acute Hepatic 35
649 c LCL022 Localized Lipodystrophy 35
650 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 35
651 ATR013 Atrichia with Papular Lesions 35
652 CHM006 Chime Syndrome 35
653 HRP002 Herpes Gestationis 35
654 MLT002 Multiple Symmetrical Lipomatosis 34
655 ECT004 Ecthyma 34
656 c SBC035 Subacute Cutaneous Lupus Erythematosus 34
657 c CNG191 Congenital Disorder of Glycosylation, Type Iia 34
658 c HRM007 Hermansky-Pudlak Syndrome 4 34
659 c MCP036 Mucopolysaccharidosis Ih/s 34
660 KRN001 Korean Hemorrhagic Fever 34
661 c CNG208 Congenital Disorder of Glycosylation, Type Iic 34
662 MND025 Mandibulofacial Dysostosis with Alopecia 34
663 c MCP015 Mucopolysaccharidosis Type Ix 33
664 P FRN036 Frontonasal Dysplasia 1 33
665 DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 33
666 AND014 Androgenic Alopecia 33
667 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33
668 c CNG197 Congenital Disorder of Glycosylation, Type Ih 33
669 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
670 c WLL027 Weill-Marchesani Syndrome 1, Recessive 32
671 c MCP020 Mucopolysaccharidosis Type Iiic 32
672 c HRM012 Hermansky-Pudlak Syndrome 9 32
673 PST011 Pustulosis of Palm and Sole 32
674 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 31
675 NVS007 Nevus of Ota 31
676 c CNG204 Congenital Disorder of Glycosylation, Type Iih 31
677 PMP009 Pemphigus Erythematosus 31
678 EHL060 Ehlers-Danlos Syndrome Due to Tenascin X Deficiency 31
679 c CNG379 Congenital Disorder of Glycosylation, Type It 31
680 FLL019 Follicular Mucinosis 31
681 c EHL029 Ehlers-Danlos Syndrome, Cardiac Valvular Form 31
682 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
683 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
684 c HRM011 Hermansky-Pudlak Syndrome 8 31
685 P PSR004 Psoriasis Susceptibility 1 31
686 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
687 c WLL026 Weill-Marchesani Syndrome 2, Dominant 30
688 LCH003 Lichen Nitidus 30
689 MLR009 Miliaria 30
690 PSD016 Pseudosarcomatous Fibromatosis 30
691 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
692 LCH014 Lichen Amyloidosis 30
693 c MCP023 Mucopolysaccharidosis Type Ivb 30
694 PRT094 Protoporphyria, Erythropoietic, X-Linked 29
695 c CNG188 Congenital Disorder of Glycosylation, Type if 29
696 c MCP014 Mucopolysaccharidosis Type Iiid 29
697 c PSR019 Psoriasis Susceptibility 13 29
698 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 29
699 PHY008 Physical Urticaria 29
700 SLR005 Solar Urticaria 29
701 SRC011 Sarcocystosis 29
702 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 28
703 PMP010 Pompholyx 28
704 c HRM010 Hermansky-Pudlak Syndrome 7 28
705 PPL017 Papillary Hidradenoma 28
706 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 28
707 CHL035 Cholinergic Urticaria 28
708 ACR004 Acrokeratosis Verruciformis 28
709 P ADL037 Adult Xanthogranuloma 28
710 INV005 Inverted Follicular Keratosis 28
711 c CNG403 Congenital Disorder of Glycosylation, Type Ix 28
712 c CWD008 Cowden Syndrome 6 28
713 PRP093 Pierpont Syndrome 28
714 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 28
715 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
716 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
717 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
718 P PLT008 Pili Torti 27
719 MLR001 Miliaria Rubra 27
720 c CNG383 Congenital Disorder of Glycosylation, Type Iik 27
721 c CNG194 Congenital Disorder of Glycosylation, Type Ig 27
722 ERY002 Erythema Infectiosum 27
723 GRM003 German Syndrome 27
724 TLG001 Telogen Effluvium 27
725 c ANG045 Angioedema, Hereditary, Type Iii 27
726 SCL002 Scleredema Adultorum 27
727 MLN005 Melanoacanthoma 27
728 FLL042 Folliculotropic Mycosis Fungoides 27
729 c CNG190 Congenital Disorder of Glycosylation, Type Iib 27
730 SPN180 Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 26
731 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
732 c CNG192 Congenital Disorder of Glycosylation, Type Ik 26
733 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
734 LRY022 Laryngoonychocutaneous Syndrome 26
735 BNG069 Benign Cephalic Histiocytosis 26
736 PMP008 Pemphigus Vegetans 26
737 c CNG198 Congenital Disorder of Glycosylation, Type Il 26
738 KPP002 Keppen-Lubinsky Syndrome 26
739 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
740 c CWD004 Cowden Syndrome 5 26
741 c FRN033 Frontonasal Dysplasia 2 26
742 IMP001 Impetigo Herpetiformis 25
743 MNG001 Mongolian Spot 25
744 NDL010 Nodular Hidradenoma 25
745 c CNG185 Congenital Disorder of Glycosylation, Type Iig 25
746 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
747 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 25
748 EPS001 Epstein-Barr Virus Hepatitis 25
749 c CWD003 Cowden Syndrome 2 25
750 c HRM020 Hermansky-Pudlak Syndrome 10 25
751 c CNG193 Congenital Disorder of Glycosylation, Type Ip 25
752 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 25
753 c WLL011 Weill-Marchesani-Like Syndrome 24
754 DGT002 Digital Clubbing, Isolated Congenital 24
755 KRT047 Keratosis Pilaris Atrophicans 23
756 BLL015 Bullous Lichen Planus 23
757 c CWD007 Cowden Syndrome 3 23
758 CLR013 Clear Cell Hidradenoma 23
759 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 23
760 c CNG207 Congenital Disorder of Glycosylation, Type Io 23
761 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 23
762 EXF002 Exfoliative Ichthyosis 23
763 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 23
764 c CNG497 Congenital Disorder of Glycosylation, Type Iio 23
765 PHK008 Phakomatosis Cesioflammea 23
766 PRM206 Premature Aging Syndrome, Penttinen Type 23
767 ANG062 Angioosteohypertrophic Syndrome 23
768 c CWD005 Cowden Syndrome 4 23
769 c APL023 Aplasia Cutis Congenita, Nonsyndromic 23
770 c PRP091 Porphyria Cutanea Tarda, Type I 23
771 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
772 c FML324 Familial Porphyria Cutanea Tarda 23
773 c NLD005 Nail Disorder, Nonsyndromic Congenital, 10, 22
774 c CNG386 Congenital Disorder of Glycosylation, Type Iu 22
775 c FRN032 Frontonasal Dysplasia 3 22
776 DFF009 Diffuse Lipomatosis 22
777 c WLL025 Weill-Marchesani Syndrome 3, Recessive 22
778 TRC029 Trichodontoosseous Syndrome 22
779 MCL047 Macular Amyloidosis 22
780 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22
781 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 22
782 c CNG498 Congenital Disorder of Glycosylation, Type Iin 21
783 ULC005 Ulcer of Lower Limbs 21
784 c CNG504 Congenital Disorder of Glycosylation, Type Iip 21
785 DYS133 Dyschromatosis Universalis 21
786 P TRC031 Trichorhinophalangeal Syndrome 21
787 PRG077 Progressive Nodular Histiocytosis 21
788 CTN005 Cutaneous Diphtheria 21
789 PSD078 Pseudofolliculitis Barbae 21
790 DRG013 Drug-Induced Lupus Erythematosus 20
791 c CNG378 Congenital Disorder of Glycosylation, Type Ir 20
792 BSD001 Basidiobolomycosis 20
793 ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 20
794 HRP026 Herpetiform Pemphigus 20
795 GNR023 Generalized Eruptive Histiocytosis 20
796 DRM043 Dermochondrocorneal Dystrophy 20
797 P PPL026 Papular Mucinosis 20
798 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 20
799 VLV039 Vulvar Seborrheic Keratosis 20
800 c CWD009 Cowden Syndrome 7 19
801 VLV046 Vulvovaginal Gingival Syndrome 19
802 P CTS012 Cutis Verticis Gyrata 19
803 c NLD008 Nail Disorder, Nonsyndromic Congenital, 3, 19
804 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 19
805 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 19
806 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 19
807 c PLT022 Pili Torti, Early-Onset 19
808 CNJ004 Conjunctival Pigmentation 19
809 c INT047 Internal Hordeolum 18
810 ERY010 Erythrasma 18
811 CYT017 Cytophagic Histiocytic Panniculitis 18
812 LTY001 Late Yaws 18
813 c CNG500 Congenital Disorder of Glycosylation, Type 1aa 18
814 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
815 c CHL114 Chilblain Lupus 2 18
816 HYP307 Hypertrichosis, Congenital Generalized 18
817 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 18
818 LDW001 Ludwig's Angina 18
819 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 17
820 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 17
821 GNR033 Generalized Eruptive Keratoacanthoma 17
822 IND009 Indeterminate Cell Histiocytosis 17
823 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 17
824 TLN012 Telangiectasia Macularis Eruptiva Perstans 17
825 TRC114 Trichodental Dysplasia 17
826 P PRG124 Progeroid Syndrome, Congenital, Petty Type 17
827 CRN224 Craniofaciofrontodigital Syndrome 17
828 LPS018 Lupus Erythematosus Panniculitis 16
829 TLN007 Telangiectasia, Hereditary Benign 16
830 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 16
831 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 16
832 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 16
833 PPL038 Papular Xanthoma 16
834 HYP641 Hypotrichosis Simplex of the Scalp 16
835 TNM001 Tinea Imbricata 15
836 LNR012 Linear Verrucous Nevus Syndrome 15
837 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 15
838 DRM038 Dermotrichic Syndrome 15
839 ELS004 Elastofibroma Dorsi 15
840 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 15
841 CTN031 Cutaneous Pseudolymphoma 15
842 OCL057 Oculotrichodysplasia 15
843 CHN047 Chondroectodermal Dysplasia with Night Blindness 15
844 VRS002 Virus-Associated Trichodysplasia Spinulosa 14
845 PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 14
846 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 14
847 ANT063 Anti-P200 Pemphigoid 14
848 CHM001 Cahmr Syndrome 14
849 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 14
850 ERY050 Erythema Palmare Hereditarium 14
851 CND001 Conidiobolomycosis 14
852 c ACQ036 Acquired Angioedema Type 2 14
853 HST018 Histiocytosis, Progressive Mucinous 14
854 c APL027 Aplasia Cutis Congenita of Limbs, Autosomal Recessive 14
855 CNG248 Congenital Smooth Muscle Hamartoma 13
856 c HRN019 Hair-an Syndrome 13
857 c BCT003 Bacterial Exanthem 13
858 ONY005 Onychomatricoma 13
859 BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 13
860 MDS003 Mediastinal Lipomatosis 13
861 ATS182 Autosomal Dominant Trichoodontoonychodysplasia-Syndactyly 13
862 WRT005 Warty Dyskeratoma 13
863 BLL014 Bullous Diffuse Cutaneous Mastocytosis 13
864 PPL044 Papular Elastorrhexis 12
865 HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 12
866 LCL017 Localized Pagetoid Reticulosis 12
867 CNG238 Congenital Panfollicular Nevus 12
868 P NDL017 Nodular Cutaneous Amyloidosis 12
869 CLC050 Calciphylaxis Cutis 12
870 c KRN003 Kernicterus Due to Isoimmunization 12
871 ANN015 Anonychia with Flexural Pigmentation 12
872 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 11
873 13Q001 13q12.3 Microdeletion Syndrome 11
874 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 11
875 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 11
876 ACR080 Acral Persistent Papular Mucinosis 11
877 c PHS024 Peho Syndrome-Like 11
878 CLC049 Calcified Aponeurotic Fibroma 11
879 HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 11
880 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 11
881 INF022 Inflamed Seborrheic Keratosis 11
882 c ACQ035 Acquired Angioedema Type 1 11
883 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 10
884 PLB003 Pili Bifurcati 10
885 PRM233 Primary Cutaneous Plasmacytosis 10
886 c ACQ026 Acquired Pseudoxanthoma Elasticum 10
887 PHK006 Phakomatosis Pigmentokeratotica 10
888 c CNG088 Congenital Disorder of Glycosylation Type I/iix 9
889 ACR078 Acral Self-Healing Collodion Baby 9
890 SLF008 Self-Healing Papular Mucinosis 9
891 WHT012 White Fibrous Papulosis of the Neck 9
892 c LTB002 Ltbp2-Related Weill-Marchesani Syndrome 9
893 CRC033 Circumscribed Palmoplantar Hypokeratosis 9
894 HMN008 Hemangioma of Subcutaneous Tissue 9
895 c RRL001 Rare Lichen Planus 9
896 PLG007 Pili Gemini 9
897 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 9
898 FBR006 Fibroepithelial Polyp of the Anus 9
899 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
900 ZNC005 Zinc-Responsive Necrolytic Acral Erythema 9
901 c PRM185 Primary Essential Cutis Verticis Gyrata 9
902 c FBN002 Fbn1-Related Weill-Marchesani Syndrome 8
903 P CRD218 Cardiac-Valvular Ehlers-Danlos Syndrome 8
904 DSC010 Discrete Papular Lichen Myxedematosus 8
905 TYP022 Typical Urticaria Pigmentosa 8
906 NDL018 Nodular Urticaria Pigmentosa 8
907 AMY054 Amyloidosis Cutis Dyschromia 8
908 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
909 c SX2003 Six2-Related Frontonasal Dysplasia 7
910 CHR052 Chronic Fungal Otitis Externa 7
911 P APL009 Aplasia Cutis Congenita of Limbs Recessive 7
912 PHK009 Phakomatosis Cesiomarmorata 7
913 c PPL045 Papular Mucinosis of Infancy 7
914 ATY027 Atypical Lichen Myxedematosus 7
915 DDY001 Didymosis Aplasticosebacea 7
916 BLK002 Balkan Hemorrhagic Fever 7
917 CHL020 Cholesteatoma of Attic 7
918 MXL007 Maxillary Sinus Cholesteatoma 7
919 STR006 Stromal Corneal Pigmentation 7
920 PHK010 Phakomatosis Spilorosea 6
921 ISL088 Isolated Congenital Anonychia 6
922 ORP001 Oropharyngeal Anthrax 6
923 c BRS027 Breast Malignant Eccrine Spiradenoma 6
924 c PRG024 Progeroid Syndrome Petty Type 6
925 c ADM006 Adamts10-Related Weill-Marchesani Syndrome 6
926 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
927 NDL019 Nodular Lichen Myxedematosus 6
928 PLQ001 Plaque-Form Urticaria Pigmentosa 6
929 ANG056 Angora Hair Nevus 6
930 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 5
931 FBR005 Fibroepithelial Polyp of Urethra 5
932 VLV014 Vulva Fibroepithelial Polyp 5
933 P BNG015 Benign Eccrine Breast Spiradenoma 5
934 VLV007 Vulvar Inverted Follicular Keratosis 5
935 LTH028 Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency 5
936 FXD002 Fixed Pigmented Erythema 5
937 c NNS039 Nonsyndromic Congenital Nail Disorder 2 5
938 c NNS040 Nonsyndromic Congenital Nail Disorder 5 5
939 c NNS041 Nonsyndromic Congenital Nail Disorder 6 5
940 c APL007 Aplasia Cutis Congenita Dominant 5
941 CNG467 Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome 4
942 LKN022 Leukonychia Totalis-Acanthosis-Nigricans-Like Lesions-Abnormal Hair Syndrome 4
943 CNF001 Confetti-Like Macular Atrophy 4
944 LCL018 Localized Lichen Myxedematosus with Mixed Features of Different Subtypes 4
945 LCL019 Localized Lichen Myxedematosus with Monoclonal Gammopathy or Systemic Symptoms 4
946 SCL040 Scleromyxedema Without Monoclonal Gammopathy 4
947 ACQ032 Acquired Kinky Hair Syndrome 4
948 HYP503 Hypertrophic or Verrucous Lupus Erythematosus 4
949 c APL010 Aplasia Cutis Congenita Recessive 4
950 c AMY014 Amyloidosis Nodular Localized Cutaneous 4
951 STR010 Steroid Lipomatosis 4
952 KRT058 Keratoderma, Palmoplantar, with Deafness 25
953 BSC001 Buschke-Ollendorff Syndrome 48
954 GRD006 Geroderma Osteodysplastica 26
955 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 41
956 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 39
957 MJD001 Majeed Syndrome 35
958 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 26
959 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 46
960 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 12
961 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 9
962 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 8
963 ICH005 Ichthyosiform Erythroderma, Corneal Involvement, Deafness 6
964 BZX001 Bazex Syndrome 38
965 MLD003 Meleda Disease 38
966 SQM006 Squamous Cell Carcinoma 69
967 EPD056 Epidermolysis Bullosa Simplex-Mp 34
968 ALL010 Allergic Contact Dermatitis 54
969 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 36
970 PNC046 Pancreatic Cancer/melanoma Syndrome 33
971 SDD003 Saddan 32
972 EPD066 Epidermoid Brain Tumor 8
973 c CLR017 Clear Cell Sarcoma 44
974 P SML002 Small Cell Sarcoma 40
975 SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 31
976 GMZ002 Gomez-Lopez-Hernandez Syndrome 27
977 GNT018 Gianotti Crosti Syndrome 21
978 AQG003 Aquagenic Syringeal Acrokeratoderm 7
979 EPD006 Epidermolysis Bullosa Acquisita 45
980 ICH002 Ichthyosis Bullosa of Siemens 45
981 LNR006 Linear Iga Disease 41
982 KRT013 Keratolytic Winter Erythema 26
983 SRC008 Sarcomatoid Squamous Cell Skin Carcinoma 26
984 MTT001 Metatypical Basal Cell Carcinoma 16
985 JNS005 Jones Hersh Yusk Syndrome 7
986 BLM001 Bloom Syndrome 61
987 ABL002 Ablepharon-Macrostomia Syndrome 52
988 DFF035 Diffuse Cutaneous Systemic Sclerosis 48
989 GRV012 Grover's Disease 35
990 GRD005 Geroderma Osteodysplasticum 27
991 FML057 Familial Dermographism 17
992 BLL006 Bullous Pemphigoid 59
993 ERY003 Erythema Multiforme 53
994 P CRN038 Carney Complex Variant 51
995 MND007 Mandibuloacral Dysplasia 51
996 CHN055 Chanarin-Dorfman Syndrome 50
997 BRK001 Brooke-Spiegler Syndrome 45
998 c SKN012 Skin Carcinoma in Situ 39
999 c PSR021 Psoriasis 14, Pustular 38
1000 P PST059 Pustular Psoriasis 36
1001 c CRN243 Carney Complex, Type 1 32
1002 CTN013 Cutaneous Anthrax 29
1003 GNT020 Giant Congenital Nevus 29
1004 BCK005 Becker Nevus Syndrome 24
1005 ECT073 Ectodermal Dysplasia/short Stature Syndrome 21
1006 c PSR022 Psoriasis 15, Pustular 16
1007 ABS001 Absence of Fingerprints Congenital Milia 15
1008 SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 55
1009 CRS005 Crest Syndrome 52
1010 PPL049 Papillon-Lefevre Syndrome 49
1011 P ICH001 Ichthyosis Vulgaris 46
1012 KRT011 Keratitis-Ichthyosis-Deafness Syndrome 42
1013 CHL122 Cholesteatoma of Middle Ear 36
1014 NDL009 Nodular Basal Cell Carcinoma 34
1015 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32
1016 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 32
1017 CTN009 Cutaneous Adenocystic Carcinoma 31
1018 CRS012 Carasil Syndrome 31
1019 ECC008 Eccrine Sweat Gland Neoplasm 26
1020 CTN002 Cutaneous Mucoepidermoid Carcinoma 24
1021 SKN011 Skin Pilomatrix Carcinoma 21
1022 BLL017 Bullous Dystrophy, Hereditary Macular Type 19
1023 c DMN009 Dominant Ichthyosis Vulgaris 15
1024 BRS103 Bier Spots 12
1025 TCH005 Tièche-Jadassohn Nevus 11
1026 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 11
1027 JDG001 Judge Misch Wright Syndrome 5
1028 GRR001 Garret Tripp Syndrome 4
1029 c BSL007 Basal Cell Carcinoma 64
1030 P SML001 Small Cell Carcinoma 55
1031 P FNC043 Fanconi Anemia, Complementation Group E 51
1032 PMS001 Poems Syndrome 51
1033 c LRG001 Large Cell Carcinoma 50
1034 c CLL013 Cell Type Cancer 48
1035 c FNC042 Fanconi Anemia, Complementation Group D2 48
1036 c BSL024 Basal Cell Carcinoma 1 45
1037 P BRT029 Brittle Cornea Syndrome 2 45
1038 MLT152 Multiple Self-Healing Squamous Epithelioma 44
1039 c FNC045 Fanconi Anemia, Complementation Group F 42
1040 c CLL012 Cell Type Benign Neoplasm 40
1041 BRT001 Bart-Pumphrey Syndrome 40
1042 PGT003 Paget Disease, Extramammary 35
1043 PRP005 Parapsoriasis 33
1044 HMM002 Haim-Munk Syndrome 32
1045 OCL034 Oculocerebrocutaneous Syndrome 30
1046 c FNC024 Fanconi Anemia, Complementation Group D1 30
1047 SCH038 Schopf-Schulz-Passarge Syndrome 30
1048 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 28
1049 c BSL011 Basal Cell Carcinoma, Multiple 27
1050 BDN002 Bednar Tumor 26
1051 c BSL034 Basal Cell Carcinoma 7 23
1052 c BSL026 Basal Cell Carcinoma 3 20
1053 c BSL025 Basal Cell Carcinoma 2 19
1054 c BSL028 Basal Cell Carcinoma 5 18
1055 c BSL029 Basal Cell Carcinoma 6 18
1056 c BSL027 Basal Cell Carcinoma 4 16
1057 YSH001 Yusho Disease 9
1058 P SYR003 Syringoma 38
1059 P SPR013 Spiradenoma 35
1060 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 33
1061 CNJ018 Conjunctival Squamous Cell Carcinoma 30
1062 MLN064 Melanoma of Soft Tissue 29
1063 VLV034 Vulva Squamous Cell Carcinoma 28
1064 c MLG036 Malignant Spiradenoma 28
1065 c MLG049 Malignant Syringoma 23
1066 FLY003 Flynn-Aird Syndrome 21
1067 ACT160 Actinic Lichen Planus 20
1068 ANL016 Anal Margin Carcinoma 18
1069 ALG003 Al Gazali Aziz Salem Syndrome 10
1070 P CPL006 Capillary Hemangioma 50
1071 NLS001 Nelson Syndrome 48
1072 ANL017 Anal Squamous Cell Carcinoma 45
1073 c HMN027 Hemangioma, Capillary Infantile 40
1074 P PRN020 Paranasal Sinus Cancer 39
1075 HDR004 Hidradenoma 37
1076 SKN021 Skin Sarcoma 35
1077 ADN015 Adenoid Basal Cell Carcinoma 35
1078 KRT003 Keratinizing Squamous Cell Carcinoma 33
1079 CYS004 Cystic Basal Cell Carcinoma 28
1080 GLL015 Gallbladder Squamous Cell Carcinoma 27
1081 PGM002 Pigmented Basal Cell Carcinoma 27
1082 MXL004 Maxillary Sinus Squamous Cell Carcinoma 26
1083 INF027 Infiltrative Basal Cell Carcinoma 26
1084 HLN001 Halo Nevi 25
1085 CLR015 Clear Cell Basal Cell Carcinoma 25
1086 PNS010 Penis Squamous Cell Carcinoma 22
1087 MCR274 Microcephalic Primordial Dwarfism, Montreal Type 20
1088 PPL004 Papillary Squamous Carcinoma 18
1089 c MLG048 Malignant Acrospiroma 17
1090 P ACR049 Acrospiroma 16
1091 HLL006 Halal Setton Wang Syndrome 15
1092 c PRN030 Paranasal Sinus Cancer, Adult 15
1093 ULR001 Ulerythema Ophryogenesis 14
1094 ANL013 Anal Margin Basal Cell Carcinoma 13
1095 GLT004 Glottis Squamous Cell Carcinoma 13
1096 TRC017 Trachea Squamous Cell Carcinoma 13
1097 URT034 Urethra Squamous Cell Carcinoma 13
1098 URT021 Ureter Squamous Cell Carcinoma 13
1099 ANG030 Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert 12
1100 ANL007 Anal Margin Squamous Cell Carcinoma 12
1101 CRN001 Cornea Squamous Cell Carcinoma 10
1102 MCR016 Micronodular Basal Cell Carcinoma 10
1103 FRN005 Frontal Sinus Squamous Cell Carcinoma 10
1104 SRC003 Sarcomatoid Basal Cell Carcinoma 10
1105 THY027 Thymus Squamous Cell Carcinoma 9
1106 SPR023 Supraglottis Squamous Cell Carcinoma 9
1107 RYM001 Roy Maroteaux Kremp Syndrome 9
1108 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 8
1109 SGN001 Signet Ring Basal Cell Carcinoma 8
1110 FML077 Familial Multiple Trichodiscomas 8
1111 HRY007 Hairy Palms and Soles 7
1112 SBC013 Sebaceous Basal Cell Carcinoma 7
1113 THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 7
1114 SBG004 Subglottis Squamous Cell Carcinoma 7
1115 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 7
1116 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
1117 TCL011 T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 6
1118 SQR001 Sequeiros Sack Syndrome 6
1119 GRB001 Grubben De Cock Borghgraef Syndrome 6
1120 CNG505 Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome 6
1121 BDH001 Boudhina Yedes Khiari Syndrome 4
1122 BRR007 Borrone Di Rocco Crovato Syndrome 4
1123 BSR001 Basaran Yilmaz Syndrome 4
1124 MLN017 Milner Khallouf Gibson Syndrome 4
1125 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 4
1126 MGR004 Megarbane Jalkh Syndrome 4
1127 ELL003 Elliott Ludman Teebi Syndrome 4
1128 c SYS001 Systemic Lupus Erythematosus 86
1129 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
1130 c FNC027 Fanconi Anemia, Complementation Group a 71
1131 FBR012 Fabry Disease 71
1132 WRN001 Werner Syndrome 68
1133 P PSD087 Pseudoxanthoma Elasticum 67
1134 P TBR001 Tuberous Sclerosis 67
1135 CST001 Costello Syndrome 67
1136 CHR012 Chronic Granulomatous Disease 66
1137 CHD001 Chediak-Higashi Syndrome 65
1138 P CWD001 Cowden Disease 65
1139 P PSR002 Psoriasis 64
1140 P LPS004 Lupus Erythematosus 63
1141 HTC002 Hutchinson-Gilford Progeria 63
1142 FBR011 Fibrodysplasia Ossificans Progressiva 63
1143 CRB011 Cerebrotendinous Xanthomatosis 62
1144 c HPT016 Hepatitis B 62
1145 c MCP009 Mucopolysaccharidosis Ii 62
1146 BHC003 Behcet Syndrome 62
1147 MST017 Mast Cell Disease 61
1148 CHR063 Chronic Mucocutaneous Candidiasis 61
1149 P HRM001 Hermansky-Pudlak Syndrome 61
1150 P CNT061 Conotruncal Heart Malformations 61
1151 LDD001 Ladd Syndrome 60
1152 LPR018 Leprechaunism 60
1153 P ALP009 Alopecia Areata 60
1154 DRR010 Darier Disease 59
1155 ELL001 Ellis-Van Creveld Syndrome 59
1156 WLL006 Wells Syndrome 58
1157 YLL002 Yellow Fever 57
1158 RBS003 Rabson-Mendenhall Syndrome 57
1159 PBL001 Piebaldism 57
1160 ALP001 Alopecia Universalis 57
1161 LYM021 Lymphadenitis 57
1162 BTN003 Biotinidase Deficiency 57
1163 c EHL033 Ehlers-Danlos Syndrome, Classic Type 57
1164 LPT001 Leptospirosis 57
1165 P OCL013 Oculodentodigital Dysplasia 57
1166 BNN001 Bannayan-Riley-Ruvalcaba Syndrome 57
1167 MVL001 Mevalonic Aciduria 56
1168 P WRD001 Waardenburg's Syndrome 56
1169 ACN002 Acanthosis Nigricans 56
1170 HMR004 Hemorrhagic Fever with Renal Syndrome 56
1171 c SPN294 Spinocerebellar Ataxia 1 56
1172 PRP083 Porphyria, Acute Intermittent 55
1173 HLC001 Holocarboxylase Synthetase Deficiency 55
1174 PRT093 Proteus Syndrome, Somatic 55
1175 c TYR012 Tyrosinemia, Type I 55
1176 P SPN301 Spinocerebellar Ataxia 2 55
1177 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 55
1178 c TBR024 Tuberous Sclerosis-1 55
1179 P HLL001 Hallermann-Streiff Syndrome 55
1180 ALK013 Alkaptonuria 54
1181 MLT135 Multiple Sulfatase Deficiency 54
1182 P HYP345 Hyper-Ige Recurrent Infection Syndrome 54
1183 ERD001 Erdheim-Chester Disease 54
1184 ARS001 Aarskog-Scott Syndrome 54
1185 OCL020 Ocular Cicatricial Pemphigoid 53
1186 c PSD066 Pseudohypoparathyroidism, Type Ib 52
1187 c WRD030 Waardenburg Syndrome, Type 1 52
1188 c SPN293 Spinocerebellar Ataxia 12 52
1189 P PMP005 Pemphigus Vulgaris 51
1190 ART001 Arterial Tortuosity Syndrome 51
1191 c HPT007 Hepatitis E 51
1192 c SPN291 Spinocerebellar Ataxia 7 51
1193 VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 51
1194 PRP032 Porphyria Variegata 51
1195 P CTN015 Cutaneous T Cell Lymphoma 51
1196 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 51
1197 P FML012 Familial Partial Lipodystrophy 51
1198 P GND004 Gonadal Dysgenesis 51
1199 P CRN108 Cranioectodermal Dysplasia 1 50
1200 P ADM011 Adams-Oliver Syndrome 50
1201 URB001 Urbach-Wiethe Disease 50
1202 BRT002 Birt-Hogg-Dube Syndrome 50
1203 P PCH015 Pachyonychia Congenita 1 50
1204 c SPN314 Spinocerebellar Ataxia 10 50
1205 ERY017 Erythema Elevatum Diutinum 49
1206 PMP001 Pemphigus 49
1207 VLV011 Vulvovaginal Candidiasis 49
1208 ICH054 Ichthyosis, X-Linked 49
1209 c SPN312 Spinocerebellar Ataxia 14 49
1210 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49
1211 ONC002 Onchocerciasis 48
1212 P LSS002 Lissencephaly 48
1213 PRP082 Porphyria, Congenital Erythropoietic 48
1214 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 48
1215 CHL069 Cholesteatoma 47
1216 PST062 Pustulosis Palmaris Et Plantaris 47
1217 FRB001 Farber Lipogranulomatosis 47
1218 OCC006 Occipital Horn Syndrome 47
1219 CCT002 Cicatricial Pemphigoid 47
1220 P PRK001 Porokeratosis 47
1221 c SPN296 Spinocerebellar Ataxia 17 47
1222 ECT078 Ectodermal Dysplasia 2, Clouston Type 47
1223 c SPN309 Spinocerebellar Ataxia 6 47
1224 P INF049 Infantile Myofibromatosis 47
1225 c TYR013 Tyrosinemia, Type Ii 47
1226 PRT103 Protoporphyria, Erythropoietic, Autosomal Recessive 46
1227 MLT145 Multiple Enchondromatosis, Maffucci Type 46
1228 MNL001 Monilethrix 46
1229 HRT031 Hartnup Disorder 46
1230 P PSD015 Pseudohypoparathyroidism 46
1231 c SPN311 Spinocerebellar Ataxia 13 45
1232 HYP088 Hyper-Igd Syndrome 45
1233 P KRT005 Keratoacanthoma 45
1234 c SPN305 Spinocerebellar Ataxia 11 44
1235 MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 44
1236 P TYR004 Tyrosinemia 44
1237 ACT164 Actinic Prurigo 44
1238 c SPN290 Spinocerebellar Ataxia 15 44
1239 HYP691 Hypomelanosis of Ito 44
1240 c SPN100 Spinocerebellar Ataxia 27 44
1241 c SPN308 Spinocerebellar Ataxia 28 44
1242 LCH009 Lichen Sclerosus 44
1243 c WRD020 Waardenburg Syndrome, Type 4a 43
1244 CLR065 Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 43
1245 NDL003 Nodular Nonsuppurative Panniculitis 43
1246 c CCK005 Cockayne Syndrome, Type a 42
1247 PMP004 Pemphigus Foliaceus 42
1248 ENC010 Encephalocraniocutaneous Lipomatosis 42
1249 c SPN304 Spinocerebellar Ataxia 8 42
1250 c PCH012 Pachyonychia Congenita 2 42
1251 c SPN265 Spinocerebellar Ataxia 36 42
1252 STT007 Steatocystoma Multiplex 42
1253 c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 42
1254 SYR002 Syringocystadenoma Papilliferum 41
1255 c TYR011 Tyrosinemia, Type Iii 41
1256 ANT024 Anthrax Disease 41
1257 LCH011 Lichen Planopilaris 41
1258 c 46X001 46 Xy Gonadal Dysgenesis 41
1259 DFF001 Diffuse Cutaneous Mastocytosis 41
1260 ERY004 Erysipelas 41
1261 PYG006 Pyogenic Granuloma 41
1262 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
1263 c SPN106 Spinocerebellar Ataxia 5 40
1264 NLX004 Neu-Laxova Syndrome 1 40
1265 c LSS005 Lissencephaly 1 40
1266 c CCK006 Cockayne Syndrome, Type B 40
1267 P PLL002 Pellagra 40
1268 PRL019 Prolidase Deficiency 40
1269 c SPN103 Spinocerebellar Ataxia 31 39
1270 KRT036 Keratosis, Seborrheic, Somatic 39
1271 HYL004 Hyaline Fibromatosis Syndrome 39
1272 P UVS001 Uv-Sensitive Syndrome 38
1273 ICH020 Ichthyosis Prematurity Syndrome 38
1274 SWT003 Sweat Gland Disease 38
1275 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 38
1276 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 38
1277 MLK003 Melkersson-Rosenthal Syndrome 38
1278 DRF001 Dirofilariasis 38
1279 c SPN097 Spinocerebellar Ataxia 23 38
1280 P PRK003 Parkes Weber Syndrome 38
1281 c SYS061 Systemic Lupus Erythematosus 16 38
1282 HPT008 Hepatic Tuberculosis 37
1283 c SPN094 Spinocerebellar Ataxia 18 37
1284 FXF002 Fox-Fordyce Disease 37
1285 WYR002 Weyers Acrofacial Dysostosis 37
1286 BLR027 Blue Rubber Bleb Nevus 37
1287 OTM001 Otomycosis 37
1288 TNG001 Tungiasis 37
1289 c WRD032 Waardenburg Syndrome, Type 2a 36
1290 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
1291 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 36
1292 GRN007 Granuloma Annulare 36
1293 PMP002 Pemphigoid Gestationis 36
1294 NPH004 Nephropathia Epidemica 36
1295 ORL022 Oral Erosive Lichen 35
1296 c LPD019 Lipodystrophy, Partial, Acquired 35
1297 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 35
1298 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 35
1299 PRR013 Prurigo Nodularis 34
1300 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 34
1301 XNT009 Xanthoma Disseminatum 34
1302 SBC017 Sebaceous Gland Disease 34
1303 c SPN099 Spinocerebellar Ataxia 26 34
1304 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 34
1305 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
1306 P NNN014 Noonan-Like Syndrome with Loose Anagen Hair 34
1307 c SPN299 Spinocerebellar Ataxia 20 34
1308 c SPN096 Spinocerebellar Ataxia 21 33
1309 LCH013 Lichen Planus Pemphigoides 33
1310 CBB002 Cobb Syndrome 33
1311 LSS001 Loiasis 33
1312 PRL042 Proliferating Trichilemmal Cyst 33
1313 c SPN105 Spinocerebellar Ataxia 4 33
1314 c PSD104 Pseudohypoparathyroidism, Type Ii 33
1315 c SPN095 Spinocerebellar Ataxia 19 33
1316 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
1317 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 33
1318 c SPN266 Spinocerebellar Ataxia 35 32
1319 CTS011 Cutis Marmorata Telangiectatica Congenita 32
1320 HYP137 Hypotrichosis Simplex 32
1321 c PSR017 Psoriasis 2 32
1322 P DYS023 Dyschromatosis Universalis Hereditaria 32
1323 PLV001 Pelvic Lipomatosis 32
1324 ANN001 Anonychia Congenita 32
1325 c SYS043 Systemic Lupus Erythematosus 1 32
1326 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 32
1327 ALL007 Allergic Urticaria 32
1328 c FNC028 Fanconi Anemia, Complementation Group L 32
1329 SCL025 Scleromyxedema 32
1330 NCR002 Necrobiosis Lipoidica 32
1331 c PRK082 Porokeratosis 1, Multiple Types 32
1332 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 32
1333 c MYF007 Myofibromatosis, Infantile, 1 31
1334 P PRD037 Periodontal Ehlers-Danlos Syndrome 31
1335 ECT063 Ectodermal Dysplasia 3, Witkop Type 31
1336 VBR001 Vibratory Urticaria 31
1337 P UNC001 Uncombable Hair Syndrome 30
1338 c WRD031 Waardenburg Syndrome, Type 3 30
1339 c FNC046 Fanconi Anemia, Complementation Group P 30
1340 EHL042 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 30
1341 c ADM005 Adams-Oliver Syndrome 1 30
1342 c SPN104 Spinocerebellar Ataxia 34 30
1343 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 30
1344 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 30
1345 PCW002 Pcwh Syndrome 30
1346 ELS002 Elastosis Perforans Serpiginosa 30
1347 LMB008 Limb-Mammary Syndrome 29
1348 INF046 Infantile Digital Fibromatosis 29
1349 c WRD024 Waardenburg Syndrome, Type 4c 29
1350 c LSS006 Lissencephaly 2 29
1351 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 29
1352 c FML117 Familial Cold Autoinflammatory Syndrome 2 29
1353 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 29
1354 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
1355 c LSS010 Lissencephaly 4 29
1356 ANH001 Ainhum 29
1357 ALP048 Alopecia Totalis 29
1358 c FNC029 Fanconi Anemia, Complementation Group I 29
1359 c PSD058 Pseudohypoparathyroidism Ic 29
1360 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 29
1361 ECT046 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 28
1362 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 28
1363 c WRD019 Waardenburg Syndrome, Type 4b 28
1364 P HRD022 Hordeolum 28
1365 MLG141 Malignant Atrophic Papulosis 28
1366 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 28
1367 c SPN098 Spinocerebellar Ataxia 25 28
1368 c WRD010 Waardenburg Syndrome Type 4 28
1369 c CCK003 Cockayne Syndrome Type Ii 28
1370 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 28
1371 c FNC023 Fanconi Anemia, Complementation Group N 28
1372 c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 27
1373 c HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 27
1374 c VRL008 Viral Exanthem 27
1375 c PCH010 Pachyonychia Congenita 3 27
1376 OCL033 Oculocerebral Syndrome with Hypopigmentation 27
1377 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 27
1378 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 27
1379 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
1380 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1381 MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 27
1382 P FML313 Familial Progressive Hyperpigmentation 27
1383 c SPN286 Spinocerebellar Ataxia 40 27
1384 c SYS038 Systemic Lupus Erythematosus 2 27
1385 CTN027 Cutaneous Mastocytoma 27
1386 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
1387 ECC005 Eccrine Adenocarcinoma 26
1388 HYP649 Hyperpigmentation with or Without Hypopigmentation 26
1389 c SPN284 Spinocerebellar Ataxia 38 26
1390 c LPD034 Lipodystrophy, Familial Partial, Type 4 26
1391 PRG123 Progeroid Syndrome, Neonatal 26
1392 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
1393 LPD026 Lipedema 26
1394 STN012 Sting-Associated Vasculopathy, Infantile-Onset 26
1395 GRL004 Gorlin-Chaudhry-Moss Syndrome 26
1396 c CCK002 Cockayne Syndrome Type I 26
1397 P XLN161 X-Linked Chondrodysplasia Punctata 26
1398 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
1399 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 26
1400 OCL039 Oculoectodermal Syndrome 25
1401 PRM128 Primary Cutaneous Follicle Center Lymphoma 25
1402 c LSS009 Lissencephaly 3 25
1403 c CRN111 Cranioectodermal Dysplasia 4 25
1404 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 25
1405 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 25
1406 c ADM009 Adams-Oliver Syndrome 4 25
1407 PSD043 Pseudopelade of Brocq 25
1408 c FNC025 Fanconi Anemia, Complementation Group J 25
1409 NVS016 Nevus Comedonicus, Somatic 25
1410 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 25
1411 HRY005 Hairy Elbows 25
1412 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
1413 c SPN372 Spinocerebellar Ataxia 43 25
1414 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 25
1415 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
1416 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 25
1417 HYP180 Hypertrichosis Lanuginosa Congenita 24
1418 c CRN110 Cranioectodermal Dysplasia 3 24
1419 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1420 HYP160 Hyperkeratosis Lenticularis Perstans 24
1421 c PCH011 Pachyonychia Congenita 4 24
1422 c SPN247 Spinocerebellar Ataxia Type 19/22 24
1423 c FNC048 Fanconi Anemia, Complementation Group O 24
1424 KRT014 Keratosis Follicularis Spinulosa Decalvans 24
1425 c ADM007 Adams-Oliver Syndrome 2 24
1426 LSN002 Loose Anagen Hair Syndrome 24
1427 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
1428 SCL022 Scleredema 24
1429 c CRN109 Cranioectodermal Dysplasia 2 24
1430 c ADM008 Adams-Oliver Syndrome 3 24
1431 ACK001 Ackerman Syndrome 24
1432 c LSS025 Lissencephaly 5 24
1433 c CCK004 Cockayne Syndrome Type Iii 24
1434 c ADM010 Adams-Oliver Syndrome 5 24
1435 c SYS046 Systemic Lupus Erythematosus 3 24
1436 c SPN102 Spinocerebellar Ataxia 30 23
1437 FRN020 Frontal Fibrosing Alopecia 23
1438 c SPN283 Spinocerebellar Ataxia 37 23
1439 PLM015 Pulmonary Systemic Sclerosis 23
1440 c SPN383 Spinocerebellar Ataxia 42 23
1441 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 23
1442 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23
1443 c PRK080 Porokeratosis 3, Multiple Types 23
1444 c SYS041 Systemic Lupus Erythematosus 9 23
1445 c FNC047 Fanconi Anemia, Complementation Group Q 23
1446 c WRD022 Waardenburg Syndrome, Type 2d 23
1447 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 23
1448 KRN007 Kerion Celsi 23
1449 NCR009 Necrobiotic Xanthogranuloma 23
1450 c SYS053 Systemic Lupus Erythematosus 5 23
1451 c FML270 Familial Cold Autoinflammatory Syndrome 4 22
1452 c FNC058 Fanconi Anemia, Complementation Group R 22
1453 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 22
1454 c WRD029 Waardenburg Syndrome, Type 2b 22
1455 c ALP039 Alopecia Areata 1 22
1456 c SYS051 Systemic Lupus Erythematosus 4 22
1457 c SYS040 Systemic Lupus Erythematosus 10 22
1458 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 22
1459 LLS001 Lelis Syndrome 22
1460 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 22
1461 c SYS055 Systemic Lupus Erythematosus 12 22
1462 MCP039 Mucoepithelial Dysplasia, Hereditary 22
1463 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 22
1464 c ADM012 Adams-Oliver Syndrome 6 22
1465 ART037 Arthrogryposis and Ectodermal Dysplasia 22
1466 ELJ001 Elejalde Disease 22
1467 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 21
1468 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 21
1469 LNR010 Linear Lichen Planus 21
1470 c DYS139 Dyschromatosis Universalis Hereditaria 3 21
1471 LPS019 Lupus Erythematosus Tumidus 21
1472 P ALP068 Alopecia-Intellectual Disability Syndrome 21
1473 RNG030 Ringed Hair 21
1474 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 21
1475 ZNC006 Zinc, Elevated Plasma 21
1476 PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 21
1477 ICH046 Ichthyosis Histrix, Curth-Macklin Type 21
1478 P HYP253 Hypohidrotic Ectodermal Dysplasia, Autosomal 21
1479 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1480 P FNC052 Fanconi Anemia, Complementation Group T 21
1481 BKS002 Book Syndrome 20
1482 GRD004 Gardner-Diamond Syndrome 20
1483 QNQ001 Quinquaud's Decalvans Folliculitis 20
1484 c SPN323 Spinocerebellar Ataxia 41 20
1485 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 20
1486 LDD006 Ledderhose Disease 20
1487 KRT065 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 20
1488 P HYD015 Hydroa Vacciniforme 20
1489 c SYS067 Systemic Lupus Erythematosus 15 20
1490 LCH008 Lichen Planus Pigmentosus 20
1491 ATR052 Atrophic Lichen Planus 19
1492 LYM123 Lymphedema-Hypoparathyroidism Syndrome 19
1493 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 19
1494 TBS009 Teebi-Shaltout Syndrome 19
1495 c FNC057 Fanconi Anemia, Complementation Group U 19
1496 PRG023 Progeroid Short Stature with Pigmented Nevi 19
1497 c ALP040 Alopecia Areata 2 19
1498 c FML337 Familial Chilblain Lupus 19
1499 c SYS048 Systemic Lupus Erythematosus 8 19
1500 NVD003 Nevoid Hypermelanosis, Linear and Whorled 19
1501 CRT034 Corticosteroid-Sensitive Aseptic Abscesses 18
1502 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 18
1503 GST046 Gastrointestinal Anthrax 18
1504 LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 18
1505 c SYS045 Systemic Lupus Erythematosus 14 18
1506 c WRD026 Waardenburg Syndrome, Type 2c 18
1507 MRN005 Marie Unna Congenital Hypotrichosis 18
1508 c FNC056 Fanconi Anemia, Complementation Group V 18
1509 c SPN259 Spinocerebellar Ataxia 32 18
1510 RDR002 Rodrigues Blindness 18
1511 c SYS065 Systemic Lupus Erythematosus 11 18
1512 c UVS005 Uv-Sensitive Syndrome 1 18
1513 c MYF008 Myofibromatosis, Infantile 2 18
1514 c UVS004 Uv-Sensitive Syndrome 2 18
1515 c SYS047 Systemic Lupus Erythematosus 7 17
1516 SCL044 Scalp Syndrome 17
1517 HYP489 Hypotrichosis-Deafness Syndrome 17
1518 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 17
1519 c SPN107 Spinocerebellar Ataxia 9 17
1520 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 17
1521 c UVS003 Uv-Sensitive Syndrome 3 17
1522 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
1523 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 17
1524 c LSS035 Lissencephaly 8 17
1525 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 17
1526 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 17
1527 c LPR019 Lipe-Related Familial Partial Lipodystrophy 17
1528 PTR029 Pterygium, Antecubital 17
1529 PTY005 Pityriasis Lichenoides Chronica 17
1530 ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 17
1531 c FML223 Familial Keratoacanthoma 17
1532 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 16
1533 ACR039 Acromegaloid Hypertrichosis Syndrome 16
1534 c SPN336 Spinocerebellar Ataxia Type 16 16
1535 c SYS052 Systemic Lupus Erythematosus 13 16
1536 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 16
1537 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 16
1538 PBL004 Piebald Trait with Neurologic Defects 16
1539 PNH003 Pinheiro Freire-Maia Miranda Syndrome 16
1540 ECC001 Eccrine Papillary Adenocarcinoma 16
1541 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 16
1542 c CHN018 Chondrodysplasia Punctata 2, X-Linked 16
1543 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
1544 c PRK075 Porokeratosis 7, Multiple Types 16
1545 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 15
1546 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 15
1547 SCL051 Scalp Defects and Postaxial Polydactyly 15
1548 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 15
1549 OTN001 Otoonychoperoneal Syndrome 15
1550 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 15
1551 PLD002 Pilodental Dysplasia with Refractive Errors 15
1552 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 15
1553 c PMP006 Pemphigus Vulgaris, Familial 15
1554 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 14
1555 c ENG003 Eng-Related Hereditary Hemorrhagic Telangiectasia 14
1556 AML012 Ameloonychohypohidrotic Syndrome 14
1557 ANN014 Annular Lichen Planus 14
1558 CTR005 Cataract and Congenital Ichthyosis 14
1559 c PLL006 Pellagra Like Syndrome 14
1560 ICH012 Ichthyosis Hystrix Gravior 14
1561 ELS005 Elastoma 14
1562 TRC052 Trichofolliculoma 14
1563 P NNP004 Nonphotosensitive Trichothiodystrophy 14
1564 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 13
1565 PLT021 Pili Torti and Developmental Delay 13
1566 LNT008 Lentiginosis, Inherited Patterned 13
1567 c ACV002 Acvrl1-Related Hereditary Hemorrhagic Telangiectasia 13
1568 ODN008 Odontomicronychial Dysplasia 13
1569 c PRK074 Porokeratosis 9, Multiple Types 13
1570 c UNC019 Uncombable Hair Syndrome 2 13
1571 ORL024 Oral and Digital Anomalies with Ichthyosis 13
1572 c PRK084 Porokeratosis 6, Multiple Types 13
1573 c UNC018 Uncombable Hair Syndrome 3 13
1574 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 12
1575 ODN004 Odonto Onycho Dysplasia with Alopecia 12
1576 ACH007 Achenbach Syndrome 12
1577 P CLS050 Classical-Like Ehlers-Danlos Syndrome 12
1578 c CHN017 Chondrodysplasia Punctata 1, X-Linked 12
1579 ANN013 Annular Atrophic Lichen Planus 12
1580 c 46X002 46 Xx Gonadal Dysgenesis 11
1581 c ERC007 Ercc8-Related Cockayne Syndrome 11
1582 HYP012 Hyperpigmentation of Eyelid 11
1583 CHL021 Cholesteatoma of External Ear 11
1584 HYP182 Hypertrichosis, Anterior Cervical 11
1585 c ERC006 Ercc6-Related Cockayne Syndrome 11
1586 CHR175 Chromhidrosis 11
1587 ANG063 Angiolipomatosis, Familial 10
1588 ONY004 Onychocytic Matricoma 10
1589 HYP181 Hypertrichosis Lanuginosa, Acquired 10
1590 c DYS090 Dyschromatosis Universalis Hereditaria 1 10
1591 P ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 10
1592 ACR040 Acromelanosis 10
1593 ALP049 Alopecia Antibody Deficiency 10
1594 P BRS026 Breast Apocrine Carcinoma 10
1595 c HYP563 Hyperpigmentation, Familial Progressive, 1 9
1596 c KRT034 Krt6a-Related Pachyonychia Congenita 9
1597 GNN001 Genuine Diffuse Phlebectasia 9
1598 PMP003 Pemphigus and Fogo Selvagem 9
1599 c HLL012 Hallermann-Streiff-Like Syndrome 9
1600 RCH009 Roch-Leri Mesosomatous Lipomatosis 8
1601 ONY006 Onychodystrophy-Anonychia 8
1602 c ITG003 Itgam-Related Susceptibility to Systemic Lupus Erythematosus 8
1603 c GRD008 Grid2-Related Spinocerebellar Ataxia 8
1604 PLT010 Pili Torti Onychodysplasia 8
1605 c GDF001 Gdf2-Related Hereditary Hemorrhagic Telangiectasia 8
1606 EHL037 Ehlers-Danlos Syndrome, Vascular-Like Type 8
1607 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 8
1608 c DYS091 Dyschromatosis Universalis Hereditaria 2 8
1609 c CR2002 Cr2-Related Susceptibility to Systemic Lupus Erythematosus 7
1610 ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 7
1611 c KRT031 Krt16-Related Pachyonychia Congenita 7
1612 c KRT032 Krt17-Related Pachyonychia Congenita 7
1613 c KRT035 Krt6b-Related Pachyonychia Congenita 7
1614 c SMD005 Smad4-Related Hereditary Hemorrhagic Telangiectasia 7
1615 HYP046 Hypopigmentation of Eyelid 7
1616 c BRS033 Breast Apocrine Carcinoma in Situ 6
1617 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 6
1618 c EHL023 Ehlers-Danlos Syndrome, Classic Type, Col5a1-Related 6
1619 c EHL024 Ehlers-Danlos Syndrome, Classic Type, Col5a2-Related 6
1620 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 6
1621 CRM003 Ceruminous Carcinoma 6
1622 c CFC001 Cfc1-Related Conotruncal Heart Malformations 6
1623 c DNS006 Dnase1-Related Susceptibility to Systemic Lupus Erythematosus 6
1624 c ALP081 Alopecia Intellectual Disability Syndrome 2 6
1625 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 6
1626 c DCX002 Dcx-Related Lissencephaly 6
1627 VRR005 Verrucous Nevus Acanthokeratolytic 6
1628 c EHL022 Ehlers-Danlos Syndrome, Classic Type, Col1a1-Related 5
1629 c PRK016 Parkes Weber Syndrome, Rasa1-Related 5
1630 c HYD016 Hydroa Vacciniforme, Familial 4
1631 c OCL037 Oculodentodigital Dysplasia Dominant 4
1632 BLS001 Blau Syndrome 61
1633 CYL004 Cylindromatosis, Familial 29
1634 EPD027 Epidermolysa Bullosa Simplex with Muscular Dystrophy 13
1635 MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 54
1636 BP1002 Bap1 Tumor Predisposition Syndrome 37
1637 TYL002 Tylosis with Esophageal Cancer 26
1638 P GRS003 Griscelli Syndrome 54
1639 c GRS014 Griscelli Syndrome, Type 2 53
1640 c GRS013 Griscelli Syndrome, Type 1 48
1641 c GRS012 Griscelli Syndrome, Type 3 37
1642 CRR015 Curry-Jones Syndrome, Somatic Mosaic 28
1643 SZR001 Sezary's Disease 53
1644 P CND004 Candidiasis 56
1645 LYM008 Lymphangiosarcoma 46
1646 FRN039 Frank-Ter Haar Syndrome 36
1647 ECC004 Eccrine Porocarcinoma 34
1648 c CND026 Candidiasis, Familial, 2, Autosomal Recessive 33
1649 c CND025 Candidiasis, Familial, 8 26
1650 c CND028 Candidiasis, Familial, 4, Autosomal Recessive 22
1651 c CND031 Candidiasis, Familial, 9 21
1652 c CND024 Candidiasis, Familial, 6, Autosomal Dominant 19
1653 c FML334 Familial Candidiasis 16
1654 c CND027 Candidiasis, Familial, 3 15
1655 c FML177 Familial Candidiasis 5 15
1656 KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 11
1657 LNG039 Lung Squamous Cell Carcinoma 53
1658 c TRC102 Trichothiodystrophy 1, Photosensitive 50
1659 BLD047 Bladder Squamous Cell Carcinoma 40
1660 CLN009 Colon Squamous Cell Carcinoma 27
1661 INF028 Infundibulocystic Basal Cell Carcinoma 25
1662 MDD007 Middle Ear Squamous Cell Carcinoma 22
1663 RNL009 Renal Pelvis Squamous Cell Carcinoma 20
1664 c TRC100 Trichothiodystrophy 3, Photosensitive 19
1665 P TRC099 Trichothiodystrophy 2, Photosensitive 18
1666 DNT019 Daentl Towsend Siegel Syndrome 9
1667 LCR007 Lacrimal Gland Squamous Cell Carcinoma 7
1668 EXT016 External Ear Squamous Cell Carcinoma 6
1669 TNG005 Tang Hsi Ryu Syndrome 5
1670 TLF001 Telfer Sugar Jaeger Syndrome 5
1671 P ATX030 Ataxia-Telangiectasia 78
1672 PTZ001 Peutz-Jeghers Syndrome 70
1673 P NNN008 Noonan Syndrome 1 68
1674 MYC006 Mycosis Fungoides 67
1675 P DYS007 Dyskeratosis Congenita 66
1676 P CRD013 Cardiofaciocutaneous Syndrome 65
1677 MNK001 Menkes Disease 63
1678 LYM017 Lyme Disease 62
1679 c HPT001 Hepatitis C 62
1680 P CCK001 Cockayne Syndrome 62
1681 P SHR029 Short Syndrome 61
1682 CNC002 Cinca Syndrome 61
1683 P RFS001 Refsum Disease 61
1684 KDS001 Kid Syndrome 57
1685 PRD019 Periodic Fever, Familial 56
1686 c HPT003 Hepatitis a 56
1687 c HRD002 Hereditary Angioedema 56
1688 KLP010 Klippel-Trenaunay-Weber Syndrome 55
1689 NLP001 Nail-Patella Syndrome 55
1690 CPR001 Coproporphyria 54
1691 HLY001 Hailey-Hailey Disease 53
1692 P ERY008 Erythromelalgia 52
1693 LGS001 Legius Syndrome 51
1694 HDR002 Hidradenitis Suppurativa 51
1695 c LPD015 Lipodystrophy, Familial Partial, Type 2 51
1696 P SCH070 Schwannomatosis 51
1697 P FML052 Familial Cold Autoinflammatory Syndrome 50
1698 NPH018 Nephrogenic Systemic Fibrosis 50
1699 NNN026 Noonan Syndrome with Multiple Lentigines 50
1700 KMR001 Kimura Disease 50
1701 SPH001 Sapho Syndrome 49
1702 CHR288 Chronic Recurrent Multifocal Osteomyelitis 49
1703 INC021 Incontinentia Pigmenti 48
1704 P TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 48
1705 SND002 Sneddon Syndrome 48
1706 YLL001 Yellow Nail Syndrome 48
1707 NRF008 Neurofibromatosis-Noonan Syndrome 47
1708 PTY003 Pityriasis Rubra Pilaris 46
1709 CHR105 Choreoacanthocytosis 46
1710 DYS022 Dyschromatosis Symmetrica Hereditaria 46
1711 VCS001 Vici Syndrome 46
1712 c SHR030 Short Qt Syndrome 45
1713 CYS008 Cystic Echinococcosis 44
1714 P PRM001 Primary Cutaneous Amyloidosis 44
1715 c HRM017 Hermansky-Pudlak Syndrome 2 42
1716 FML091 Familial Tumoral Calcinosis 42
1717 SBC011 Sebaceous Adenocarcinoma 40
1718 LYM052 Lymphomatoid Papulosis 40
1719 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 39
1720 SWT002 Sweat Gland Cancer 38
1721 c NNN010 Noonan Syndrome 3 38
1722 ADP001 Adiposis Dolorosa 38
1723 TRC077 Trichomegaly 38
1724 c NNN012 Noonan Syndrome 5 37
1725 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
1726 INT259 Interleukin 1 Receptor Antagonist Deficiency 36
1727 STR079 Sturge-Weber Syndrome, Somatic, Mosaic 36
1728 c LPD021 Lipodystrophy, Familial Partial, Type 3 35
1729 P WLL010 Woolly Hair Syndrome 35
1730 P PHS005 Peho Syndrome 35
1731 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 34
1732 GPS001 Gapo Syndrome 34
1733 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 34
1734 c NNN011 Noonan Syndrome 4 33
1735 SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 33
1736 SLT014 Salt and Pepper Developmental Regression Syndrome 33
1737 c FML253 Familial Cold Autoinflammatory Syndrome 3 33
1738 NRC019 Neurocutaneous Melanosis, Somatic 32
1739 LVD002 Livedoid Vasculopathy 32
1740 c FML294 Familial Short Qt Syndrome 31
1741 GCH018 Gaucher Disease, Perinatal Lethal 31
1742 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 31
1743 LPM010 Lipomatosis, Multiple Symmetric 31
1744 GTT002 Guttate Psoriasis 31
1745 c NNN013 Noonan Syndrome 6 31
1746 c NNN025 Noonan Syndrome 10 31
1747 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 30
1748 CPL011 Capillary Malformations, Congenital, 1, Somatic, Mosaic 30
1749 TMR012 Tumoral Calcinosis, Familial, Normophosphatemic 29
1750 CHL073 Cholestasis-Lymphedema Syndrome 29
1751 c DYS039 Dyskeratosis Congenita Autosomal Dominant 29
1752 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 29
1753 c NNN021 Noonan Syndrome 8 29
1754 STY001 Satoyoshi Syndrome 28
1755 P MLT048 Multiple Familial Trichoepithelioma 28
1756 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 28
1757 c SHR032 Short Qt Syndrome 2 28
1758 c NNN020 Noonan Syndrome 7 28
1759 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 28
1760 ADN077 Adenosine Deaminase 2 Deficiency 28
1761 PHC006 Phacomatosis Pigmentovascularis 27
1762 BLP043 Blepharocheilodontic Syndrome 27
1763 EXT048 Extranodal Nasal Nk/t Cell Lymphoma 27
1764 c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 27
1765 c NNN024 Noonan Syndrome 9 27
1766 c LPD040 Lipodystrophy, Familial Partial, Type 1 27
1767 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 26
1768 c SHR031 Short Qt Syndrome 1 26
1769 CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 26
1770 c SHR033 Short Qt Syndrome 3 26
1771 ALB003 Albinism-Deafness Syndrome 25
1772 NST002 Nestor-Guillermo Progeria Syndrome 25
1773 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 24
1774 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 24
1775 c PTP002 Ptpn11-Related Noonan Syndrome 24
1776 c CRD164 Cardiofaciocutaneous Syndrome 3 24
1777 c CRD167 Cardiofaciocutaneous Syndrome 4 24
1778 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
1779 c CRD163 Cardiofaciocutaneous Syndrome 2 23
1780 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 23
1781 c DYS040 Dyskeratosis Congenita Autosomal Recessive 22
1782 c EHL046 Ehlers-Danlos Syndrome, Musculocontractural Type 2 22
1783 ARD001 Aredyld 22
1784 CHL075 Cheilitis Glandularis 22
1785 ACR034 Acrogeria, Gottron Type 21
1786 JNT001 Joint Laxity, Familial 21
1787 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 21
1788 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 21
1789 c NNN009 Noonan Syndrome 2 20
1790 DFN007 Deafness Enamel Hypoplasia Nail Defects 20
1791 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 20
1792 ECT044 Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency 20
1793 c TRC095 Trichoepithelioma, Multiple Familial, 1 19
1794 DRM023 Dermoodontodysplasia 19
1795 c SCH067 Schwannomatosis-2 19
1796 PRF005 Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 19
1797 c RFS003 Refsum Disease, Infantile Form 19
1798 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 19
1799 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 18
1800 CRN075 Crandall Syndrome 18
1801 STT008 Steatocystoma Multiplex with Natal Teeth 18
1802 ICH066 Ichthyosis--Cheek--Eyebrow Syndrome 18
1803 MLN018 Moloney Syndrome 17
1804 c WLL018 Woolly Hair, Autosomal Dominant 17
1805 WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 17
1806 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 17
1807 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 16
1808 ANT066 Anterior Cutaneous Nerve Entrapment Syndrome 16
1809 CLL041 Collagenoma, Familial Cutaneous 16
1810 GST056 Gastrocutaneous Syndrome 16
1811 c WLL035 Woolly Hair, Autosomal Recessive 3 15
1812 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 15
1813 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 15
1814 ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 15
1815 FLT007 Flotch Syndrome 15
1816 CTN030 Cutaneus Colagenous Vasculopathy 15
1817 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1818 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 14
1819 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 14
1820 TTH022 Teeth, Congenital Absence of, with Taurodontia and Sparse Hair 13
1821 CLL039 Collagenosis, Familial Reactive Perforating 12
1822 c TRC094 Trichoepithelioma, Multiple Familial, 2 12
1823 c WLL013 Woolly Hair, Autosomal Recessive 10
1824 c ACD010 Acd-Related Dyskeratosis Congenita 10
1825 c PRN059 Parn-Related Dyskeratosis Congenita 9
1826 c RTL001 Rtel1-Related Dyskeratosis Congenita 9
1827 c BRF003 Braf-Related Noonan Syndrome 8
1828 c KRS004 Kras-Related Noonan Syndrome 8
1829 c LZT002 Lztr1-Related Noonan Syndrome 8
1830 c NRS004 Nras-Related Noonan Syndrome 8
1831 c RF1002 Raf1-Related Noonan Syndrome 8
1832 c RT1001 Rit1-Related Noonan Syndrome 8
1833 c SS1001 Sos1-Related Noonan Syndrome 8
1834 c SS2001 Sos2-Related Noonan Syndrome 8
1835 MCR328 Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome 7
1836 c MP2002 Map2k1-Related Noonan Syndrome 6
1837 c KRS003 Kras-Related Cardiofaciocutaneous Syndrome 6
1838 c MP2001 Map2k1-Related Cardiofaciocutaneous Syndrome 6
1839 c DKC001 Dkc1-Related Dyskeratosis Congenita 6
1840 c NHP001 Nhp2-Related Dyskeratosis Congenita 6
1841 c NP1001 Nop10-Related Dyskeratosis Congenita 6
1842 c TRC065 Terc-Related Dyskeratosis Congenita 6
1843 c TRT008 Tert-Related Dyskeratosis Congenita 6
1844 c TNF003 Tinf2-Related Dyskeratosis Congenita 6
1845 c WRP001 Wrap53-Related Dyskeratosis Congenita 6
1846 c SCN010 Scn9a-Related Inherited Erythromelalgia 6
1847 c PX7001 Pex7-Related Refsum Disease 6
1848 c HYP245 Hyperphosphatemic Familial Tumoral Calcinosis, Galnt3-Related 6
1849 c HYP246 Hyperphosphatemic Familial Tumoral Calcinosis, Kl-Related 6
1850 MLT051 Multiple Fibrofolliculoma Familial 6
1851 c BRF001 Braf-Related Cardiofaciocutaneous Syndrome 6
1852 c MP2003 Map2k2-Related Cardiofaciocutaneous Syndrome 6
1853 c PHY003 Phyh-Related Refsum Disease 5
1854 c HYP244 Hyperphosphatemic Familial Tumoral Calcinosis, Fgf23-Related 5
1855 ESP021 Esophageal Cancer 74
1856 P PFF001 Pfeiffer Syndrome 71
1857 c PFF007 Pfeiffer Syndrome Type 1 38
1858 c PFF011 Pfeiffer Syndrome Type 2 27
1859 c PFF009 Pfeiffer Syndrome Type 3 26
1860 c PFF008 Pfeiffer Syndrome Type 1, 2 and 3 13
1861 MCR038 Macrogyria, Pseudobulbar Palsy and Mental Retardation 3
1862 P NRF018 Neurofibromatosis, Type 1 78
1863 P WSK001 Wiskott-Aldrich Syndrome 74
1864 BSL036 Basal Cell Nevus Syndrome 67
1865 P PRP003 Porphyria Cutanea Tarda 64
1866 c NRF019 Neurofibromatosis, Type 2 62
1867 P MRT001 Muir-Torre Syndrome 59
1868 c ADL017 Adult T-Cell Leukemia 58
1869 PSD014 Pseudopseudohypoparathyroidism 55
1870 c PSD067 Pseudohypoparathyroidism Ia 54
1871 P SJG002 Sjogren-Larsson Syndrome 51
1872 OSS012 Osseous Heteroplasia, Progressive 51
1873 MRS002 Marshall Syndrome 50
1874 MRK001 Merkel Cell Carcinoma 50
1875 c DYS166 Dysautonomia, Familial 49
1876 JHN001 Johanson-Blizzard Syndrome 47
1877 c HMN021 Human T-Cell Leukemia Virus Type 1 47
1878 WRD025 Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 46
1879 P TCL004 T-Cell Leukemia 46
1880 P DYS021 Dysautonomia 45
1881 c ACT020 Acute T Cell Leukemia 45
1882 DBW001 Dubowitz Syndrome 44
1883 KHL003 Kohlschutter-Tonz Syndrome 42
1884 c HMN022 Human T-Cell Leukemia Virus Type 2 41
1885 TTZ003 Tietz Albinism-Deafness Syndrome 41
1886 P WHT013 White Sponge Nevus 1 40
1887 APC004 Apocrine Adenocarcinoma 39
1888 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 33
1889 BJR001 Bjornstad Syndrome 32
1890 TMP011 Temple-Baraitser Syndrome 31
1891 OLV004 Oliver-Mcfarlane Syndrome 31
1892 FLR001 Filarial Elephantiasis 31
1893 DBR002 De Barsy Syndrome 31
1894 EMB016 Emberger Syndrome 31
1895 ABC001 Abcd Syndrome 30
1896 JHN004 Johnson Neuroectodermal Syndrome 28
1897 c WSK002 Wiskott-Aldrich Syndrome 2 28
1898 c LKM004 Leukemia, B-Cell, Chronic 26
1899 CFL005 Cafe-Au-Lait Spots, Multiple 25
1900 CMP075 Campomelia, Cumming Type 23
1901 c DYS033 Dysautonomia Like Disorder 22
1902 c LKM005 Leukemia, T-Cell, Chronic 21
1903 SCR025 Scarf Syndrome 21
1904 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 20
1905 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 18
1906 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 18
1907 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 17
1908 c WHT015 White Sponge Nevus 2 15
1909 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 14
1910 c HMN023 Human T-Cell Leukemia Virus Type 3 13
1911 c MLH003 Mlh1-Related Muir-Torre Syndrome 7
1912 c SJG003 Sjogren-Larsson-Like Syndrome 5
1913 c MSH003 Msh2-Related Muir-Torre Syndrome 5
1914 MCK007 Muckle-Wells Syndrome 63
1915 LMY005 Leiomyomatosis and Renal Cell Cancer 56
1916 WYB001 Wyburn Mason's Syndrome 25
1917 HRD035 Hair Defect with Photosensitivity and Mental Retardation 17
1918 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 16
1919 VND003 Van Den Bosch Syndrome 16
1920 ADN021 Adenomatous Polyposis Coli 71



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